Biography
Professional Summary
Education & Certifications
- Board Certification: Royal College of Physicians-U.K., Cardiology (1999)
- Residency: University of Oxford (1996) UK
- Internship: University of Glasgow (1997) Scotland
- Medical Education: University of Glasgow (1996) Scotland
- Fellowship: University of Oxford (2002) UK
- Fellowship: Stanford University Medical Center (2006) CA
- DPhil, University of Oxford, Molecular Cardiology (2002)
- MRCP (UK), Royal College of Physicians (UK), Medicine (1999)
- MB ChB, University of Glasgow, Medicine (1996)
- BSc (Hons), University of Glasgow, Physiology (1993)
Honors & Awards
- Cardiovascular Medicine Basic Science Award, Stanford University (2004)
- Career Development Award (K08), National Institutes of Health (2006)
- Faculty Scholar, Donald E. and Delia B. Baxter Foundation (2009)
- Fellow, American Heart Association (2009)
- Fellow, American Society of Clinical Investigation (2016)
- Fellow, Royal College of Physicians (London) (2017)
- Guggenheim Fellowship, John Simon Guggenheim Memorial Foundation (2023)
- Innovative Research Award, American Heart Association (2008)
- Medal of Honor (Genomic and Precision Medicine), American Heart Association (2018)
- NIH Director's New Innovator Award, National Institutes of Health (2009)
- One Brave Idea, American Heart Association (2017)
- Roger and Joelle Burnell Chair of Genomics and Precision Health, Stanford University (2021)
- Western Affiliates Young Investigator Award, American Heart Association (2004)
- Young Investigator Award, European Society of Cardiology (2002)
- Young Investigator Award (Basic), Astra-Zeneca (2003)
- Young Investigator Prize in Cardiovascular Medicine, UK Medical Research Society (2002)
Memberships
- Advisor, Apple (2020 - 2023)
- Non-executive director, AstraZeneca PLC (2020 - Present)
- Founder and Advisor, Deepcell Inc (2018 - Present)
- Advisor, Foresite Labs (2020 - Present)
- Advisor, Medical Excellence Capital (2022 - Present)
- Advisor, Galatea Bio (2022 - Present)
- Founder & Advisor, Personalis Inc (2013 - Present)
- Advisor, Sequence Bio (2019 - Present)
- Founder and Board Chair, Svexa Inc (2019 - Present)
Administrative Appointments
- Chair, Stanford Medicine Clinical Genomics Advisory Committee (2020 - Present)
- Co-chair, Cardiovascular Working Group, Clinical Genome Resource (Clingen) (2014 - 2016)
- Co-chair, NIH Undiagnosed Diseases Network (2014 - 2017)
- Co-Director, Stanford Research Training Program in Myocardial Biology (T32) (2010 - Present)
- Co-Director, Stanford Data Science Initiative (2016 - 2021)
- Co-Director, Stanford Center for Digital Health (2017 - Present)
- Director, Stanford Cardiopulmonary Exercise Testing Laboratory (2007 - Present)
- Executive Committee, Molecular Transducers of Physical Activity Consortium (MoTrPAC) (2018 - Present)
- Executive Committee, Wu Tsai Human Performance Alliance (2021 - Present)
- Founding Director, Stanford Center for Inherited Cardiovascular Disease (2010 - Present)
- Leadership committee, AHA Council on Functional Genomics and Translational Biology (2009 - 2014)
- Medical Director, Clinical Genomics Program (2013 - 2020)
- Member, Institute of Medicine Roundtable on Translating Genomic-based Research for Health (2012 - 2015)
Publications
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The prevalence and prognostic significance of electrocardiographic abnormalities.
Ashley, E. A., Raxwal, V. K., & Froelicher, V. F. (2000). The prevalence and prognostic significance of electrocardiographic abnormalities. Current Problems in Cardiology, 25(1), 1–72. -
Medical education - beyond tomorrow? The new doctor - Asclepiad or Logiatros?
Ashley, E. A. (2000). Medical education - beyond tomorrow? The new doctor - Asclepiad or Logiatros? MEDICAL EDUCATION, 34(6), 455–459. -
Computer applications in the interpretation of the exercise electrocardiogram
Ashley, E. A., & Froelicher, V. F. (2000). Computer applications in the interpretation of the exercise electrocardiogram. SPORTS MEDICINE, 30(4), 231–48. -
Exercise testing in clinical medicine
Ashley, E. A., Myers, J., & Froelicher, V. (2000). Exercise testing in clinical medicine. LANCET, 356(9241), 1592–97. -
The post myocardial infarction exercise test: still worthy after all of these years
Ashley, E. A., & Froelicher, V. (2001). The post myocardial infarction exercise test: still worthy after all of these years. EUROPEAN HEART JOURNAL, 22(4), 273–76. -
Sex, the heart, and sildenafil.
Alloggiamento, T., Zipp, C., Raxwal, V. K., Ashley, E., Dey, S., LEVINE, S., & Froelicher, V. F. (2001). Sex, the heart, and sildenafil. Current Problems in Cardiology, 26(6), 388–415. -
An evidence-based review of the resting electrocardiogram as a screening technique for heart disease
Ashley, E. A., Raxwal, V., & Froelicher, V. (2001). An evidence-based review of the resting electrocardiogram as a screening technique for heart disease. PROGRESS IN CARDIOVASCULAR DISEASES, 44(1), 55–67. -
Better decisions through science: Exercise testing scores
Froelicher, V., Shetler, K., & Ashley, E. (2002). Better decisions through science: Exercise testing scores. PROGRESS IN CARDIOVASCULAR DISEASES, 44(5), 395–414. -
Cardiac nitric oxide synthase 1 regulates basal and beta-adrenergic contractility in murine ventricular myocytes
Ashley, E. A., Sears, C. E., Bryant, S. M., Watkins, H. C., & Casadei, B. (2002). Cardiac nitric oxide synthase 1 regulates basal and beta-adrenergic contractility in murine ventricular myocytes. CIRCULATION, 105(25), 3011–3016. -
Diagnosing coronary artery disease in diabetic patients
Ashley, E. A., Raxwal, V., Finlay, M., & Froelicher, V. (2002). Diagnosing coronary artery disease in diabetic patients. DIABETES-METABOLISM RESEARCH AND REVIEWS, 18(3), 201–8. -
Exercise testing scores as an example of better decisions through science
Ashley, E., Myers, J., & Froelicher, V. (2002). Exercise testing scores as an example of better decisions through science. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE, 34(8), 1391–98. -
Cardiac neuronal nitric oxide synthase isoform regulates myocardial contraction and calcium handling
Sears, C. E., Bryant, S. M., Ashley, E. A., Lygate, C. A., Rakovic, S., Wallis, H. L., … Casadei, B. (2003). Cardiac neuronal nitric oxide synthase isoform regulates myocardial contraction and calcium handling. CIRCULATION RESEARCH, 92(5), E52–E59. -
Novel role for the potent endogenous inotrope apelin in human cardiac dysfunction
Chen, M. M., Ashley, E. A., Deng, D. X. F., Tsalenko, A., Deng, A., Tabibiazar, R., … Quertermous, T. (2003). Novel role for the potent endogenous inotrope apelin in human cardiac dysfunction. CIRCULATION, 108(12), 1432–39. -
Electrocardiographic arrhythmia risk testing
Engel, G., Beckerman, J. G., Froelicher, V. F., Yamazaki, T., Chen, H. A., Richardson, K., … Wang, P. J. (2004). Electrocardiographic arrhythmia risk testing. CURRENT PROBLEMS IN CARDIOLOGY, 29(7), 365–432. -
Nitric oxide control of cardiac function: is neuronal nitric oxide synthase a key component?
Sears, C. E., Ashley, E. A., & Casadei, B. (2004). Nitric oxide control of cardiac function: is neuronal nitric oxide synthase a key component? PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES, 359(1446), 1021–1044. -
Transcriptional profiling of in vitro smooth muscle cell differentiation identifies specific patterns of gene and pathway activation
Spin, J. M., Nallamshetty, S., Tabibiazar, R., Ashley, E. A., King, J. Y., Chen, M., … Quertermous, T. (2004). Transcriptional profiling of in vitro smooth muscle cell differentiation identifies specific patterns of gene and pathway activation. PHYSIOLOGICAL GENOMICS, 19(3), 292–302. -
Mouse strain-specific differences in vascular wall gene expression and their relationship to vascular disease
Tabibiazar, R., Wagner, R. A., Spin, J. M., Ashley, E. A., Narasimhan, B., Rubin, E. M., … Quertermous, T. (2005). Mouse strain-specific differences in vascular wall gene expression and their relationship to vascular disease. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 25(2), 302–8. -
The endogenous peptide apelin potently improves cardiac contractility and reduces cardiac loading in vivo
Ashley, E. A., Powers, J., Chen, M., Kundu, R., Finsterbach, T., Caffarelli, A., … Quertermous, T. (2005). The endogenous peptide apelin potently improves cardiac contractility and reduces cardiac loading in vivo. CARDIOVASCULAR RESEARCH, 65(1), 73–82. -
Signature patterns of gene expression in mouse atherosclerosis and their correlation to human coronary disease
Tabibiazar, R., Wagner, R. A., Ashley, E. A., King, J. Y., Ferrara, R., Spin, J. M., … Quertermous, T. (2005). Signature patterns of gene expression in mouse atherosclerosis and their correlation to human coronary disease. PHYSIOLOGICAL GENOMICS, 22(2), 213–26. -
Pathway analysis of coronary atherosclerosis
King, J. Y., Ferrara, R., Tabibiazar, R., Spin, J. M., Chen, M. M., Kuchinsky, A., … Ashley, E. A. (2005). Pathway analysis of coronary atherosclerosis. PHYSIOLOGICAL GENOMICS, 23(1), 103–18. -
Preoperative cardiac evaluation: mechanisms, assessment, and reduction of risk.
Ashley, E. A., & Vagelos, R. H. (2005). Preoperative cardiac evaluation: mechanisms, assessment, and reduction of risk. Thoracic Surgery Clinics, 15(2), 263–75. -
Plasma concentrations of the novel peptide apelin are decreased in patients with chronic heart failure
Chong, K. S., Gardner, R. S., Morton, J. J., Ashley, E. A., & McDonagh, T. A. (2006). Plasma concentrations of the novel peptide apelin are decreased in patients with chronic heart failure. EUROPEAN JOURNAL OF HEART FAILURE, 8(4), 355–360. -
Angiotensin-converting enzyme genotype predicts cardiac and autonomic responses to prolonged exercise
Ashley, E. A., Kardos, A., Jack, E. S., Habenbacher, W., Wheeler, M., Kim, Y. M., … Douglas, P. (2006). Angiotensin-converting enzyme genotype predicts cardiac and autonomic responses to prolonged exercise. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 48(3), 523–31. -
Opposing cardiovascular roles for the angiotensin and apelin signaling pathways
Ashley, E., Chun, H. J., & Quertermous, T. (2006). Opposing cardiovascular roles for the angiotensin and apelin signaling pathways. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 41(5), 778–781. -
Perioperative cardiac risk: pathophysiology, assessment and management.
Sista, R. R., Ernst, K. V., & Ashley, E. A. (2006). Perioperative cardiac risk: pathophysiology, assessment and management. Expert Review of Cardiovascular Therapy, 4(5), 731–43. -
Magnetic resonance imaging of progressive cardiomyopathic changes in the db/db mouse
Yue, P., Arai, T., Terashima, M., Sheikh, A. Y., Cao, F., Charo, D., … Tsao, P. S. (2007). Magnetic resonance imaging of progressive cardiomyopathic changes in the db/db mouse. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 292(5), H2106–H2118. -
Network analysis of human in-stent restenosis
Ashley, E. A., Ferrara, R., King, J. Y., Vailaya, A., Kuchinsky, A., He, X., … Quertermous, T. (2006). Network analysis of human in-stent restenosis. CIRCULATION, 114(24), 2644–54. -
Emerging therapies for the management of decompensated heart failure - From bench to bedside
DeGoma, E. M., Vagelos, R. H., Fowler, M. B., & Ashley, E. A. (2006). Emerging therapies for the management of decompensated heart failure - From bench to bedside. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 48(12), 2397–2409. -
Prognostic value of heart rate increase at onset of exercise testing
Leeper, N. J., Dewey, F. E., Ashley, E. A., Sandri, M., Tan, S. Y., Hadley, D., … Froelicher, V. (2007). Prognostic value of heart rate increase at onset of exercise testing. CIRCULATION, 115(4), 468–74. -
Frontiers in nephrology: Genomic approaches to understanding the molecular basis of atherosclerosis
Ashley, E. A., Spin, J. M., Tabibiazar, R., & Quertermous, T. (2007). Frontiers in nephrology: Genomic approaches to understanding the molecular basis of atherosclerosis. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 18(11), 2853–62. -
Matrix metalloproteinase circulating levels, genetic polymorphisms, and susceptibility to acute myocardial infarction among patients with coronary artery disease
Hlatky, M. A., Ashley, E., Quertermous, T., Boothroyd, D. B., Ridker, P., Southwick, A., … Go, A. S. (2007). Matrix metalloproteinase circulating levels, genetic polymorphisms, and susceptibility to acute myocardial infarction among patients with coronary artery disease. AMERICAN HEART JOURNAL, 154(6), 1043–51. -
Ventricular arrhythmias during clinical treadmill testing and prognosis
Dewey, F. E., Kapoor, J. R., Williains, R. S., Lipinski, M. J., Ashley, E. A., Hadley, D., … Froelicher, V. F. (2008). Ventricular arrhythmias during clinical treadmill testing and prognosis. ARCHIVES OF INTERNAL MEDICINE, 168(2), 225–34. -
Does size matter? Clinical applications of scaling cardiac size and function for body size
Dewey, F. E., Rosenthal, D., Murphy, D. J., Froelicher, V. F., & Ashley, E. A. (2008). Does size matter? Clinical applications of scaling cardiac size and function for body size. CIRCULATION, 117(17), 2279–87. -
Low-dose growth hormone is cardioprotective in uremia
Rabkin, R., Awwad, I., Chen, Y., Ashley, E. A., Sun, D., Sood, S., … Gross, M.-L. (2008). Low-dose growth hormone is cardioprotective in uremia. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 19(9), 1774–83. -
Apelin signaling antagonizes Ang II effects in mouse models of atherosclerosis
Chun, H. J., Ali, Z. A., Kojima, Y., Kundu, R. K., Sheikh, A. Y., Agrawal, R., … Quertermous, T. (2008). Apelin signaling antagonizes Ang II effects in mouse models of atherosclerosis. JOURNAL OF CLINICAL INVESTIGATION, 118(10), 3343–54. -
Statin Use and Ventricular Arrhythmias During Clinical Treadmill Testing
Dewey, F. E., Perez, M., Hadley, D., Freeman, J. V., Wang, P., Ashley, E. A., … Froelicher, V. F. (2009). Statin Use and Ventricular Arrhythmias During Clinical Treadmill Testing. JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 20(2), 193–99. -
Progressive dyspnea after CABG: Complication of retained epicardial pacing wires
Horng, G. S., Ashley, E., Balsam, L., Reitz, B., & Zamanian, R. T. (2008). Progressive dyspnea after CABG: Complication of retained epicardial pacing wires. ANNALS OF THORACIC SURGERY, 86(4), 1352–54. -
Age and Double Product (Systolic Blood Pressure x Heart Rate) Reserve-Adjusted Modification of the Duke Treadmill Score Nomogram in Men
Rafie, A. H. S., Dewey, F. E., Sungar, G. W., Ashley, E. A., Hadley, D., Myers, J., & Froelicher, V. F. (2008). Age and Double Product (Systolic Blood Pressure x Heart Rate) Reserve-Adjusted Modification of the Duke Treadmill Score Nomogram in Men. AMERICAN JOURNAL OF CARDIOLOGY, 102(10), 1407–12. -
Should the exercise ECG be used to screen for sudden cardiac death?
Freeman, J., Ashley, E. A., & Froelicher, V. (2009). Should the exercise ECG be used to screen for sudden cardiac death? EUROPEAN HEART JOURNAL, 30(5), 528–29. -
Apelin prevents aortic aneurysm formation by inhibiting macrophage inflammation
Leeper, N. J., Tedesco, M. M., Kojima, Y., Schultz, G. M., Kundu, R. K., Ashley, E. A., … Quertermous, T. (2009). Apelin prevents aortic aneurysm formation by inhibiting macrophage inflammation. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 296(5), H1329–H1335. -
Mechanisms of exercise intolerance in patients with hypertrophic cardiomyopathy
Le, V.-V., Perez, M. V., Wheeler, M. T., Myers, J., Schnittger, I., & Ashley, E. A. (2009). Mechanisms of exercise intolerance in patients with hypertrophic cardiomyopathy. AMERICAN HEART JOURNAL, 158(3), E27–E34. -
Re: A prospective randomized evaluation of VV delay optimization in CRT-D recipients: echocardiographic observations from the RHYTHM II ICD study.
Turcott, R. G., Das, A. K., & Ashley, E. A. (2009). Re: A prospective randomized evaluation of VV delay optimization in CRT-D recipients: echocardiographic observations from the RHYTHM II ICD study. Pacing and Clinical Electrophysiology : PACE, 32(10), 1360–1361. -
The ageing athlete: screening prior to vigorous exertion in asymptomatic adults without known cardiovascular disease
Freeman, J., Froelicher, V., & Ashley, E. (2009). The ageing athlete: screening prior to vigorous exertion in asymptomatic adults without known cardiovascular disease. BRITISH JOURNAL OF SPORTS MEDICINE, 43(9), 696–701. -
Endogenous regulation of cardiovascular function by apelin-APJ
Charo, D. N., Ho, M., Fajardo, G., Kawana, M., Kundu, R. K., Sheikh, A. Y., … Quertermous, T. (2009). Endogenous regulation of cardiovascular function by apelin-APJ. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 297(5), H1904–H1913. -
Electrocardiographic predictors of atrial fibrillation
Perez, M. V., Dewey, F. E., Marcus, R., Ashley, E. A., Al-Ahmad, A. A., Wang, P. J., & Froelicher, V. F. (2009). Electrocardiographic predictors of atrial fibrillation. AMERICAN HEART JOURNAL, 158(4), 622–28. -
Adding an Electrocardiogram to the Pre-participation Examination in Competitive Athletes: A Systematic Review
Perez, M., Fonda, H., Le, V.-V., Mitiku, T., Ray, J., Freeman, J. V., … Froelicher, V. F. (2009). Adding an Electrocardiogram to the Pre-participation Examination in Competitive Athletes: A Systematic Review. CURRENT PROBLEMS IN CARDIOLOGY, 34(12), 586–662. -
The Medical Device Safety Act of 2009: Clarifying Preemption
Turcott, R. G., & Ashley, E. A. (2009). The Medical Device Safety Act of 2009: Clarifying Preemption. AMERICAN JOURNAL OF THERAPEUTICS, 16(6), 471–74. -
New insights for the diagnosis and management of right ventricular failure, from molecular imaging to targeted right ventricular therapy
Haddad, F., Ashley, E., & Michelakis, E. D. (2010). New insights for the diagnosis and management of right ventricular failure, from molecular imaging to targeted right ventricular therapy. CURRENT OPINION IN CARDIOLOGY, 25(2), 131–140. -
Measurement Precision in the Optimization of Cardiac Resynchronization Therapy
Turcott, R. G., Witteles, R. M., Wang, P. J., Vagelos, R. H., Fowler, M. B., & Ashley, E. A. (2010). Measurement Precision in the Optimization of Cardiac Resynchronization Therapy. CIRCULATION-HEART FAILURE, 3(3), 395–404. -
Upregulation of the apelin-APJ pathway promotes neointima formation in the carotid ligation model in mouse
Kojima, Y., Kundu, R. K., Cox, C. M., Leeper, N. J., Anderson, J. A., Chun, H. J., … Quertermous, T. (2010). Upregulation of the apelin-APJ pathway promotes neointima formation in the carotid ligation model in mouse. CARDIOVASCULAR RESEARCH, 87(1), 156–65. -
Defining the Limits of Athlete's Heart Implications for Screening in Diverse Populations
Sedehi, D., & Ashley, E. A. (2010). Defining the Limits of Athlete's Heart Implications for Screening in Diverse Populations. CIRCULATION, 121(9), 1066–1068. -
Cost-Effectiveness of Preparticipation Screening for Prevention of Sudden Cardiac Death in Young Athletes
Wheeler, M. T., Heidenreich, P. A., Froelicher, V. F., Hlatky, M. A., & Ashley, E. A. (2010). Cost-Effectiveness of Preparticipation Screening for Prevention of Sudden Cardiac Death in Young Athletes. ANNALS OF INTERNAL MEDICINE, 152(5), 276–W91. -
Addition of the Electrocardiogram to the Preparticipation Examination of College Athletes
Le, V.-V., Wheeler, M. T., Mandic, S., Dewey, F., Fonda, H., Perez, M., … Froelicher, V. (2010). Addition of the Electrocardiogram to the Preparticipation Examination of College Athletes. CLINICAL JOURNAL OF SPORT MEDICINE, 20(2), 98–105. -
A general framework for dose optimization.
Turcott, R. G., Sagreiya, H., Ashley, E. A., Altman, R. B., & Das, A. K. (2009). A general framework for dose optimization. AMIA ... Annual Symposium Proceedings / AMIA Symposium. AMIA Symposium, 2009, 656–60. -
Challenges in the clinical application of whole-genome sequencing
Ormond, K. E., Wheeler, M. T., Hudgins, L., Klein, T. E., Butte, A. J., Altman, R. B., … Greely, H. T. (2010). Challenges in the clinical application of whole-genome sequencing. LANCET, 375(9727), 1749–51. -
Clinical assessment incorporating a personal genome
Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., … Altman, R. B. (2010). Clinical assessment incorporating a personal genome. LANCET, 375(9725), 1525–35. -
Genetics of Arrhythmia: Disease Pathways Beyond Ion Channels
Perez, M. V., Wheeler, M., Ho, M., Pavlovic, A., Wang, P., & Ashley, E. A. (2008). Genetics of Arrhythmia: Disease Pathways Beyond Ion Channels. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 1(2), 155–65. -
Pharmacogenetics of Heart Failure: Evidence, Opportunities, and Challenges for Cardiovascular Pharmacogenomics
Wheeler, M. T., Ho, M., Knowles, J. W., Pavlovic, A., & Ashley, E. A. (2008). Pharmacogenetics of Heart Failure: Evidence, Opportunities, and Challenges for Cardiovascular Pharmacogenomics. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 1(1), 25–36. -
A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy
Wheeler, M., Pavlovic, A., deGoma, E., Salisbury, H., Brown, C., & Ashley, E. A. (2009). A New Era in Clinical Genetic Testing for Hypertrophic Cardiomyopathy. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2(4), 381–391. -
Insights into Human beta-Cardiac Myosin Function from Single Molecule and Single Cell Studies
Sivaramakrishnan, S., Ashley, E., Leinwand, L., & Spudich, J. A. (2009). Insights into Human beta-Cardiac Myosin Function from Single Molecule and Single Cell Studies. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 2(4), 426–40. -
Chromatin regulation by Brg1 underlies heart muscle development and disease
Hang, C. T., Yang, J., Han, P., Cheng, H.-L., Shang, C., Ashley, E., … Chang, C.-P. (2010). Chromatin regulation by Brg1 underlies heart muscle development and disease. NATURE, 466(7302), 62–U74. -
Effect of Gender on Computerized Electrocardiogram Measurements in College Athletes
Mandic, S., Fonda, H., Dewey, F., Vy-van Le, Stein, R., Wheeler, M., … Froelicher, V. F. (2010). Effect of Gender on Computerized Electrocardiogram Measurements in College Athletes. PHYSICIAN AND SPORTSMEDICINE, 38(2), 156–64. -
Drug Discovery in a Multidimensional World: Systems, Patterns, and Networks
Dudley, J. T., Schadt, E., Sirota, M., Butte, A. J., & Ashley, E. (2010). Drug Discovery in a Multidimensional World: Systems, Patterns, and Networks. JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 3(5), 438–47. -
Gene Coexpression Network Topology of Cardiac Development, Hypertrophy, and Failure
Dewey, F. E., Perez, M. V., Wheeler, M. T., Watt, C., Spin, J., Langfelder, P., … Ashley, E. A. (2011). Gene Coexpression Network Topology of Cardiac Development, Hypertrophy, and Failure. CIRCULATION-CARDIOVASCULAR GENETICS, 4(1), 26–U129. -
BMP promotes motility and represses growth of smooth muscle cells by activation of tandem Wnt pathways
Perez, V. A. J., Ali, Z., Alastalo, T.-P., Ikeno, F., Sawada, H., Lai, Y.-J., … Rabinovitch, M. (2011). BMP promotes motility and represses growth of smooth muscle cells by activation of tandem Wnt pathways. JOURNAL OF CELL BIOLOGY, 192(1), 171–88. -
Genetic Analysis in Cardiovascular Disease A Clinical Perspective
Ho, E., Bhindi, R., Ashley, E. A., & Figtree, G. A. (2011). Genetic Analysis in Cardiovascular Disease A Clinical Perspective. CARDIOLOGY IN REVIEW, 19(2), 81–89. -
The concept of ventricular reserve in heart failure and pulmonary hypertension: an old metric that brings us one step closer in our quest for prediction
Haddad, F., Vrtovec, B., Ashley, E. A., Deschamps, A., Haddad, H., & Denault, A. Y. (2011). The concept of ventricular reserve in heart failure and pulmonary hypertension: an old metric that brings us one step closer in our quest for prediction. CURRENT OPINION IN CARDIOLOGY, 26(2), 123–31. -
Systems biology of heart failure, challenges and hopes
Dewey, F. E., Wheeler, M. T., & Ashley, E. A. (2011). Systems biology of heart failure, challenges and hopes. CURRENT OPINION IN CARDIOLOGY, 26(4), 314–321. -
Hearts From DCD Donors Display Acceptable Biventricular Function After Heart Transplantation in Pigs
Ali, A. A., White, P., Xiang, B., Lin, H.-Y., Tsui, S. S., Ashley, E., … Freed, D. H. (2011). Hearts From DCD Donors Display Acceptable Biventricular Function After Heart Transplantation in Pigs. AMERICAN JOURNAL OF TRANSPLANTATION, 11(8), 1621–32. -
Interpretation of the Electrocardiogram of Young Athletes
Uberoi, A., Stein, R., Perez, M. V., Freeman, J., Wheeler, M., Dewey, F., … Froelicher, V. (2011). Interpretation of the Electrocardiogram of Young Athletes. CIRCULATION, 124(6), 746–57. -
The Impact of ST Elevation on Athletic Screening
Leo, T., Uberoi, A., Jain, N. A., Garza, D., Chowdhury, S., Freeman, J. V., … Froelicher, V. (2011). The Impact of ST Elevation on Athletic Screening. CLINICAL JOURNAL OF SPORT MEDICINE, 21(5), 433–40. -
Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
Dewey, F. E., Chen, R., Cordero, S. P., Ormond, K. E., Caleshu, C., Karczewski, K. J., … Ashley, E. A. (2011). Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence. PLOS GENETICS, 7(9). -
Early Repolarization in an Ambulatory Clinical Population
Uberoi, A., Jain, N. A., Perez, M., Weinkopff, A., Ashley, E., Hadley, D., … Froelicher, V. (2011). Early Repolarization in an Ambulatory Clinical Population. CIRCULATION, 124(20), 2208–14. -
Exercise oscillatory ventilation reflects diminished quality of life and perceived functional capacity in patients with heart failure
Arena, R., Guazzi, M., Myers, J., Chase, P., Bensimhon, D., Cahalin, L., … Forman, D. E. (2011). Exercise oscillatory ventilation reflects diminished quality of life and perceived functional capacity in patients with heart failure. INTERNATIONAL JOURNAL OF CARDIOLOGY, 153(2), 213–214. -
The prognostic value of early repolarization with ST-segment elevation in African Americans
Perez, M. V., Uberoi, A., Jain, N. A., Ashley, E., Turakhia, M. P., & Froelicher, V. (2012). The prognostic value of early repolarization with ST-segment elevation in African Americans. HEART RHYTHM, 9(4), 558–65. -
DNA Sequencing Clinical Applications of New DNA Sequencing Technologies
Dewey, F. E., Pan, S., Wheeler, M. T., Quake, S. R., & Ashley, E. A. (2012). DNA Sequencing Clinical Applications of New DNA Sequencing Technologies. CIRCULATION, 125(7), 931–44. -
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
Chen, R., Mias, G. I., Li-Pook-Than, J., Jiang, L., Lam, H. Y. K., Chen, R., … Snyder, M. (2012). Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes. CELL, 148(6), 1293–1307. -
Clopidogrel: A Case for Indication-Specific Pharmacogenetics
Johnson, J. A., Roden, D. M., Lesko, L. J., Ashley, E., Klein, T. E., & Shuldiner, A. R. (2012). Clopidogrel: A Case for Indication-Specific Pharmacogenetics. CLINICAL PHARMACOLOGY & THERAPEUTICS, 91(5), 774–76. -
Patient-Specific Induced Pluripotent Stem Cells as a Model for Familial Dilated Cardiomyopathy
Sun, N., Yazawa, M., Liu, J. W., Han, L., Sanchez-Freire, V., Abilez, O. J., … Wu, J. C. (2012). Patient-Specific Induced Pluripotent Stem Cells as a Model for Familial Dilated Cardiomyopathy. SCIENCE TRANSLATIONAL MEDICINE, 4(130). -
Prognostic value of capnography during rest and exercise in patients with heart failure.
Arena, R., Guazzi, M., Myers, J., Chase, P., Bensimhon, D., Cahalin, L. P., … Forman, D. E. (2012). Prognostic value of capnography during rest and exercise in patients with heart failure. Congestive Heart Failure (Greenwich, Conn.), 18(6), 302–307. -
Whole-Genome Sequencing in Personalized Therapeutics
Cordero, P., & Ashley, E. A. (2012). Whole-Genome Sequencing in Personalized Therapeutics. CLINICAL PHARMACOLOGY & THERAPEUTICS, 91(6), 1001–9. -
Personalized medicine: hope or hype?
Salari, K., Watkins, H., & Ashley, E. A. (2012). Personalized medicine: hope or hype? EUROPEAN HEART JOURNAL, 33(13), 1564–U29. -
Apelin Enhances Directed Cardiac Differentiation of Mouse and Human Embryonic Stem Cells
Wang, I.-N. E., Wang, X., Ge, X., Anderson, J., Ho, M., Ashley, E., … Yang, P. C. (2012). Apelin Enhances Directed Cardiac Differentiation of Mouse and Human Embryonic Stem Cells. PLOS ONE, 7(6). -
Systems-Based Approaches to Cardiovascular Biomarker Discovery
Azuaje, F. J., Dewey, F. E., Brutsaert, D. L., Devaux, Y., Ashley, E. A., & Wagner, D. R. (2012). Systems-Based Approaches to Cardiovascular Biomarker Discovery. CIRCULATION-CARDIOVASCULAR GENETICS, 5(3), 360–367. -
Randomized Trial of Personal Genomics for Preventive Cardiology Design and Challenges
Knowles, J. W., Assimes, T. L., Kiernan, M., Pavlovic, A., Goldstein, B. A., Yank, V., … Ioannidis, J. P. A. (2012). Randomized Trial of Personal Genomics for Preventive Cardiology Design and Challenges. CIRCULATION-CARDIOVASCULAR GENETICS, 5(3), 368–76. -
Cell-Intrinsic Functional Effects of the alpha-Cardiac Myosin Arg-403-Gln Mutation in Familial Hypertrophic Cardiomyopathy
Chuan, P., Sivaramakrishnan, S., Ashley, E. A., & Spudich, J. A. (2012). Cell-Intrinsic Functional Effects of the alpha-Cardiac Myosin Arg-403-Gln Mutation in Familial Hypertrophic Cardiomyopathy. BIOPHYSICAL JOURNAL, 102(12), 2782–90. -
The Prognostic Utility of Cardiopulmonary Exercise Testing Stands the Test of Time in Patients With Heart Failure
Arena, R., Guazzi, M., Myers, J., Chase, P., Bensimhon, D., Cahalin, L. P., … Forman, D. E. (2012). The Prognostic Utility of Cardiopulmonary Exercise Testing Stands the Test of Time in Patients With Heart Failure. JOURNAL OF CARDIOPULMONARY REHABILITATION AND PREVENTION, 32(4), 198–202. -
Prognostic Implications of Q Waves and T-Wave Inversion Associated With Early Repolarization
Uberoi, A., Sallam, K., Perez, M., Jain, N. A., Ashley, E., & Froelicher, V. (2012). Prognostic Implications of Q Waves and T-Wave Inversion Associated With Early Repolarization. MAYO CLINIC PROCEEDINGS, 87(7), 614–19. -
A public resource facilitating clinical use of genomes
Ball, M. P., Thakuria, J. V., Zaranek, A. W., Clegg, T., Rosenbaum, A. M., Wu, X., … Church, G. M. (2012). A public resource facilitating clinical use of genomes. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 109(30), 11920–27. -
APJ acts as a dual receptor in cardiac hypertrophy
Scimia, M. C., Hurtado, C., Ray, S., Metzler, S., Wei, K., Wang, J., … Ruiz-Lozano, P. (2012). APJ acts as a dual receptor in cardiac hypertrophy. NATURE, 488(7411), 394–98. -
In Situ Optical Mapping of Voltage and Calcium in the Heart
Lee, P., Taghavi, F., Yan, P., Ewart, P., Ashley, E. A., Loew, L. M., … Woods, C. E. (2012). In Situ Optical Mapping of Voltage and Calcium in the Heart. PLOS ONE, 7(8). -
Ventilatory Power A Novel Index That Enhances Prognostic Assessment of Patients With Heart Failure
Forman, D. E., Guazzi, M., Myers, J., Chase, P., Bensimhon, D., Cahalin, L. P., … Arena, R. (2012). Ventilatory Power A Novel Index That Enhances Prognostic Assessment of Patients With Heart Failure. CIRCULATION-HEART FAILURE, 5(5), 621–626. -
Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation
Pan, S., Caleshu, C. A., Dunn, K. E., Foti, M. J., Moran, M. K., Soyinka, O., & Ashley, E. A. (2012). Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation. CIRCULATION-CARDIOVASCULAR GENETICS, 5(6), 602–10. -
Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells
Lan, F., Lee, A. S., Liang, P., Sanchez-Freire, V., Nguyen, P. K., Wang, L., … Wu, J. C. (2013). Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells. CELL STEM CELL, 12(1), 101–13. -
Electrocardiographic interpretation in athletes: the 'Seattle Criteria'
Drezner, J. A., Ackerman, M. J., Anderson, J., Ashley, E., Asplund, C. A., Baggish, A. L., … Wilson, M. G. (2013). Electrocardiographic interpretation in athletes: the 'Seattle Criteria'. BRITISH JOURNAL OF SPORTS MEDICINE, 47(3), 122–24. -
Normal electrocardiographic findings: recognising physiological adaptations in athletes
Drezner, J. A., Fischbach, P., Froelicher, V., Marek, J., Pelliccia, A., Prutkin, J. M., … Vetter, V. L. (2013). Normal electrocardiographic findings: recognising physiological adaptations in athletes. BRITISH JOURNAL OF SPORTS MEDICINE, 47(3), 125-? -
Abnormal electrocardiographic findings in athletes: recognising changes suggestive of cardiomyopathy
Drezner, J. A., Ashley, E., Baggish, A. L., Borjesson, M., Corrado, D., Owens, D. S., … Wilson, M. (2013). Abnormal electrocardiographic findings in athletes: recognising changes suggestive of cardiomyopathy. BRITISH JOURNAL OF SPORTS MEDICINE, 47(3), 137-? -
Abnormal electrocardiographic findings in athletes: recognising changes suggestive of primary electrical disease
Drezner, J. A., Ackerman, M. J., Cannon, B. C., Corrado, D., Heidbuchel, H., Prutkin, J. M., … Wilson, M. G. (2013). Abnormal electrocardiographic findings in athletes: recognising changes suggestive of primary electrical disease. BRITISH JOURNAL OF SPORTS MEDICINE, 47(3), 153-? -
Cardiopulmonary and Noninvasive Hemodynamic Responses to Exercise Predict Outcomes in Heart Failure
Myers, J., Wong, M., Adhikarla, C., Boga, M., Challa, S., Abella, J., & Ashley, E. A. (2013). Cardiopulmonary and Noninvasive Hemodynamic Responses to Exercise Predict Outcomes in Heart Failure. JOURNAL OF CARDIAC FAILURE, 19(2), 101–7. -
Validation of a cardiopulmonary exercise test score in heart failure.
Myers, J., Oliveira, R., Dewey, F., Arena, R., Guazzi, M., Chase, P., … Forman, D. E. (2013). Validation of a cardiopulmonary exercise test score in heart failure. Circulation. Heart Failure, 6(2), 211–218. -
A Clinical Approach to Inherited Hypertrophy The Use of Family History in Diagnosis, Risk Assessment, and Management
Dunn, K. E., Caleshu, C., Cirino, A. L., Ho, C. Y., & Ashley, E. A. (2013). A Clinical Approach to Inherited Hypertrophy The Use of Family History in Diagnosis, Risk Assessment, and Management. CIRCULATION-CARDIOVASCULAR GENETICS, 6(1), 118–31. -
Race differences in ventricular remodeling and function among college football players.
Haddad, F., Peter, S., Hulme, O., Liang, D., Schnittger, I., Puryear, J., … Ashley, E. A. (2013). Race differences in ventricular remodeling and function among college football players. American Journal of Cardiology, 112(1), 128–34. -
EVIDENCE OF AUTONOMIC DYSREFLEXIA DURING FUNCTIONAL ELECTRICAL-STIMULATION IN INDIVIDUALS WITH SPINAL-CORD INJURIES
Ashley, E. A., Laskin, J. J., OLENIK, L. M., Burnham, R., Steadward, R. D., Cumming, D. C., & Wheeler, G. D. (1993). EVIDENCE OF AUTONOMIC DYSREFLEXIA DURING FUNCTIONAL ELECTRICAL-STIMULATION IN INDIVIDUALS WITH SPINAL-CORD INJURIES. PARAPLEGIA, 31(9), 593–605. -
ELECTRICAL STIMULATION-ASSISTED ROWING EXERCISE IN SPINAL-CORD INJURED PEOPLE - A PILOT-STUDY
Laskin, J. J., Ashley, E. A., OLENIK, L. M., Burnham, R., Cumming, D. C., Steadward, R. D., & Wheeler, G. D. (1993). ELECTRICAL STIMULATION-ASSISTED ROWING EXERCISE IN SPINAL-CORD INJURED PEOPLE - A PILOT-STUDY. PARAPLEGIA, 31(8), 534–541. -
Hormonal responses to graded-resistance, PES-assisted strength training in spinal cord-injured
Wheeler, G. D., Ashley, E. A., Harber, V., Laskin, J. J., OLENIK, L. M., Sloley, D., … Cumming, D. C. (1996). Hormonal responses to graded-resistance, PES-assisted strength training in spinal cord-injured. SPINAL CORD, 34(5), 264–267. -
Dangerous curves - A perspective on exercise, lactate, and the anaerobic threshold
Myers, J., & Ashley, E. (1997). Dangerous curves - A perspective on exercise, lactate, and the anaerobic threshold. CHEST, 111(3), 787–95. -
Cardiology Explained
Cardiology Explained. (2004). ISBN: 1901346226. -
MOLECULAR AUTOPSY FOR SUDDEN CARDIAC DEATH USING WHOLE GENOME SEQUENCING
Dewey, F. E., Wheeler, M. T., Cordero, S., Perez, M. V., Pavlovic, A., Pushkarev, D., … Ashley, E. A. (2011). MOLECULAR AUTOPSY FOR SUDDEN CARDIAC DEATH USING WHOLE GENOME SEQUENCING. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. NEW ORLEANS,LA,LA,LA,LA: ELSEVIER SCIENCE INC. -
PREVALENCE AND PATTERNS OF EARLY REPOLARIZATION
Leo, T., Uberoi, A., Chowdhury, S., Chan, K., Jain, N. A., Weinkopff, A., … Froelicher, V. (2011). PREVALENCE AND PATTERNS OF EARLY REPOLARIZATION. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 57(14), E124–E124. -
FUNCTIONAL AND METABOLIC RECOVERY OF THE RESUSCITATED NHBD HEART
Ali, A., Xiang, B., Arora, R., White, P., Lee, T., Ashley, E., … Freed, D. (2010). FUNCTIONAL AND METABOLIC RECOVERY OF THE RESUSCITATED NHBD HEART. WILEY-BLACKWELL. -
Cardiac Resuscitation Following Circulatory Arrest in the Organ Donor Is Associated with Excellent Functional and Metabolic Recovery: Implications for Clinical Heart Transplantation
Ali, A. A., Xiang, B., White, P., Tsui, S., Ashley, E., Large, S. R., … Freed, D. H. (2010). Cardiac Resuscitation Following Circulatory Arrest in the Organ Donor Is Associated with Excellent Functional and Metabolic Recovery: Implications for Clinical Heart Transplantation. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 29(2), S118–S118. -
Hearts from DCD Donors Display Excellent Biventricular Function Following Transplantation
Ali, A. A., White, P., Xiang, B., Arora, R., Lee, T., Ashley, E., … Freed, D. (2011). Hearts from DCD Donors Display Excellent Biventricular Function Following Transplantation. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 30(4), S120–S121. -
Cardiovascular Magnetic Resonance Imaging Elucidates Genotype-Phenotype Relationships in Patients with Hypertrophic Cardiomyopathy
Heidary, S., Wheeler, M. T., Bennett, M. V., Chung, J., Pavlovic, A., Parent, M.-C., … Yang, P. C. (2011). Cardiovascular Magnetic Resonance Imaging Elucidates Genotype-Phenotype Relationships in Patients with Hypertrophic Cardiomyopathy. CIRCULATION, 124(21). -
Patient-Specific Induced Pluripotent Stem Cell as a Model for Familial Dilated Cardiomyopathy
Sun, N., Yazawa, M., Liu, J. W., Han, L., Sanchez-Freire, V., Hu, S., … Wu, J. (2011). Patient-Specific Induced Pluripotent Stem Cell as a Model for Familial Dilated Cardiomyopathy. CIRCULATION, 124(21). -
Modeling Pathogenesis in Familial Hypertrophic Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells
Lan, F., Lee, A., Liang, P., Navarrete, E., Wang, L., Leng, H., … Wu, J. (2012). Modeling Pathogenesis in Familial Hypertrophic Cardiomyopathy Using Patient-Specific Induced Pluripotent Stem Cells. CIRCULATION RESEARCH. NEW ORLEANS,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA,LA: LIPPINCOTT WILLIAMS & WILKINS. -
Clinical assessment incorporating a personal genome Reply
Morgan, A. A., Chen, R., Butte, A. J., & Ashley, E. A. (2010). Clinical assessment incorporating a personal genome Reply. LANCET, 376(9744), 869–870. -
Performance comparison of whole-genome sequencing platforms
Lam, H. Y. K., Clark, M. J., Chen, R., Chen, R., Natsoulis, G., O'Huallachain, M., … Snyder, M. (2012). Performance comparison of whole-genome sequencing platforms. NATURE BIOTECHNOLOGY, 30(1), 78–U118. -
Do premature ventricular contractions during exercise have the same prognostic value as those during recovery?
Kapoor, J. R., Williams, R. S., Hadley, D., Myers, J., Ashley, E., Froelicher, V. F., & Dewey, F. E. (2007). Do premature ventricular contractions during exercise have the same prognostic value as those during recovery? JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 49(9), 111A–111A. -
Outcomes of Septal Myectomy and Alcohol Septal Ablation for Obstructive Hypertrophic Cardiomyopathy: The Stanford Experience
Tibayan, Y., Sedehi, D., Chi, J., Pavlovic, A., Salisbury, H., Wheeler, M., … Ashley, E. A. (2009). Outcomes of Septal Myectomy and Alcohol Septal Ablation for Obstructive Hypertrophic Cardiomyopathy: The Stanford Experience. CIRCULATION. ORLANDO,FL,FL,FL,FL,FL,FL,FL,FL,FL,FL: LIPPINCOTT WILLIAMS & WILKINS. -
Insights From Network Analysis: Deficiency of Glutathione Peroxidase-1 Increases In-stent Stenosis
Ali, Z., Raiesdana, A., Qu, X., Ali, A., Pavlovic, A., Wheeler, M., … Ashley, E. (2009). Insights From Network Analysis: Deficiency of Glutathione Peroxidase-1 Increases In-stent Stenosis. CIRCULATION, 120(18), S1139–S1140. -
Network Analysis Identifies the Orphan Receptor Tyrosine Kinase Ros1 as a Determinant of Glutathione Peroxidase-1 Mediated Vascular Remodeling
Ali, Z. A., Perez, V. D. J., Raiesdana, A., Leeper, N. J., Pan, S., Qu, X., … Ashley, E. A. (2011). Network Analysis Identifies the Orphan Receptor Tyrosine Kinase Ros1 as a Determinant of Glutathione Peroxidase-1 Mediated Vascular Remodeling. CIRCULATION, 124(21). -
Insights from Network Analysis: Deficiency of Glutathione Peroxidase-1 Increases In-stent Stenosis
Ali, Z. A., Raiesdana, A., Qu, X., Patel, S., Keyghobadi, F., Saeed, A., … Ashley, E. (2011). Insights from Network Analysis: Deficiency of Glutathione Peroxidase-1 Increases In-stent Stenosis. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 58(20), B122–B122. -
Prognostic value of corrected JT and QT intervals
Engel, G., Yamazaki, T., Ashley, E. A., Wang, P., & Froelicher, V. F. (2004). Prognostic value of corrected JT and QT intervals. CIRCULATION, 110(17), 623–23. -
PROGNOSTIC IMPLICATIONS OF Q WAVES AND T WAVE INVERSION ASSOCIATED WITH EARLY REPOLARIZATION
Uberoi, A. (M., Sallam, K., Perez, M., Jain, N. A., Ashley, E., & Froelicher, V. (2012). PROGNOSTIC IMPLICATIONS OF Q WAVES AND T WAVE INVERSION ASSOCIATED WITH EARLY REPOLARIZATION. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 59(13), E567–E567. -
The cardioregulatory peptide apelin is preferentially expressed by endothelial cells and upregulated in myocardial disease states
Kundu, R. K., Sheikh, A. Y., Ho, M. Y., Chun, H. L. J., Huynh, D. T., Ali, Z. A., … Quertermous, T. (2007). The cardioregulatory peptide apelin is preferentially expressed by endothelial cells and upregulated in myocardial disease states. CIRCULATION. ORLANDO,FL,FL,FL,FL,FL,FL,FL,FL,FL: LIPPINCOTT WILLIAMS & WILKINS. -
WHAT IS THE PROGNOSTIC VALUE OF THE ST DEPRESSION CRITERIA FOR ISCHEMIA RECOMMENDED IN THE UNIVERSAL DEFINITION FOR MYOCARDIAL INFARCTION?
Perino, A., Singh, N., Aggarwal, S., Perez, M., Ashley, E., & Froelicher, V. (2013). WHAT IS THE PROGNOSTIC VALUE OF THE ST DEPRESSION CRITERIA FOR ISCHEMIA RECOMMENDED IN THE UNIVERSAL DEFINITION FOR MYOCARDIAL INFARCTION? JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(10), E1166–E1166. -
PATTERNS AND PROGNOSIS OF ALL COMPONENTS OF EARLY REPOLARIZATION IN ATHLETES AND AMBULATORY PATIENTS
Muramoto, D., Singh, N., Aggarwal, S., Perez, M., Ashley, E., Hadley, D., & Froelicher, V. (2013). PATTERNS AND PROGNOSIS OF ALL COMPONENTS OF EARLY REPOLARIZATION IN ATHLETES AND AMBULATORY PATIENTS. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(10), E349–E349. -
Evaluation of Polymorphisms in Candidate Genes in the Dramatic Response to Pharmacologic Therapy of Heart Failure
Wheeler, M. T., Pavlovic, A., Dewey, F., Perez, M., Absher, D., Ho, M. Y., … Ashley, E. A. (2008). Evaluation of Polymorphisms in Candidate Genes in the Dramatic Response to Pharmacologic Therapy of Heart Failure. CIRCULATION RESEARCH, 103(5), E64–E65. -
Overrepresentation of neuronal development pathways in heart failure patients who dramatically responded to pharmaceutical therapy
Pavlovic, A., Perez, M., Absher, D., Wheeler, M., Ho, M., Dewey, R., … Ashley, E. (2008). Overrepresentation of neuronal development pathways in heart failure patients who dramatically responded to pharmaceutical therapy. JOURNAL OF CARDIAC FAILURE, 14(6), S41–S41. -
Reevaluating Dogma: Recapitulation of Fetal Gene Expression Programs in Heart Failure
Dewey, F. E., Perez, M. V., Wheeler, M. T., & Ashley, E. A. (2008). Reevaluating Dogma: Recapitulation of Fetal Gene Expression Programs in Heart Failure. CIRCULATION RESEARCH, 103(5), E64–E64. -
Addition of the Electrocardiogram to the Pre-participation Examination of College Athletes
Le, V.-V., Dewey, F., Perez, M., Wheeler, M., Mandic, S., Sungar, G., … Froelicher, V. (2008). Addition of the Electrocardiogram to the Pre-participation Examination of College Athletes. CIRCULATION, 118(18), S835–S835. -
Left Atrial Volume and E/E' Ratio are Most Predictive of Exercise Capacity in Hypertrophic Cardiomyopathy
Le, V.-V., Perez, M., Wheeler, M., Schnittger, I., & Ashley, E. (2008). Left Atrial Volume and E/E' Ratio are Most Predictive of Exercise Capacity in Hypertrophic Cardiomyopathy. CIRCULATION, 118(18), S641–S641. -
GENETIC DETERMINANTS OF DRAMATIC IMPROVEMENT IN LEFT VENTRICULAR FUNCTION IN PATIENTS WITH HEART FAILURE
Perez, M. V., Pavlovic, A., Wheeler, M. T., Dewey, F. E., Bernstein, D., Fowler, M. B., … Ashley, E. A. (2011). GENETIC DETERMINANTS OF DRAMATIC IMPROVEMENT IN LEFT VENTRICULAR FUNCTION IN PATIENTS WITH HEART FAILURE. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 57(14), E2041–E2041. -
Statin therapy and exercise induced ventricular arrhythmias
Dewey, F. E., Perez, M., Hadley, D., Sungar, G., Wang, P., Myers, J., … Froelicher, V. F. (2008). Statin therapy and exercise induced ventricular arrhythmias. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 51(10), A174–A174. -
PAROXYSMAL ATRIAL FIBRILLATION IS ASSOCIATED WITH EXERCISE INTOLERANCE AMONG INDIVIDUALS WITH HYPERTROPHIC CARDIOMYOPATHY
Azarbal, F., Singh, M., Finocchiaro, G., Le, V.-V., Schnittger, I., Wang, P., … Ashley, E. (2013). PAROXYSMAL ATRIAL FIBRILLATION IS ASSOCIATED WITH EXERCISE INTOLERANCE AMONG INDIVIDUALS WITH HYPERTROPHIC CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(10), E1617–E1617. -
Modulation of atrial electrophysiology and oxidative stress by the endogenous peptide hormone apelin: implications in human atrial fibrillation
Kim, Y. M., Sachedina, A., Singh, M. H., Ray, S., Zhang, L., Ruiz-Lozano, P., … Backx, P. H. (2011). Modulation of atrial electrophysiology and oxidative stress by the endogenous peptide hormone apelin: implications in human atrial fibrillation. OXFORD UNIV PRESS. -
Biological effects of the novel peptide apelin are uniquely suited to the treatment of acute heart failure
Ashley, E., Charo, D., Ernst, K., Chen, M., Fajardo, G., Kawana, M., … Quertermous, T. (2006). Biological effects of the novel peptide apelin are uniquely suited to the treatment of acute heart failure. Presented at the 28th Congress of the European-Society-of-Cardiology/World Congress of Cardiology, BARCELONA,SPAIN,SPAIN,SPAIN,SPAIN: OXFORD UNIV PRESS. -
Apelin regulates cardiac contractility and rescues neurohormonal heart failure
Ernst, K. V., Ashley, E. A., Charo, D., Kawana, M., Fajardo, G., Bernstein, D., & Quertermous, T. (2006). Apelin regulates cardiac contractility and rescues neurohormonal heart failure. CIRCULATION, 114(18), 66–66. -
Apelin regulates cardiac contractility and rescues neurohormonal heart failure
Ernst, K. V., Ashley, E. A., Charo, D., Kawana, M., Fajardo, G., Bernstein, D., & Quertermous, T. (2006). Apelin regulates cardiac contractility and rescues neurohormonal heart failure. JOURNAL OF CARDIAC FAILURE, 12(6), S1–S1. -
Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy
Maron, B. J., Spirito, P., Ackerman, M. J., Casey, S. A., Semsarian, C., Estes, N. A. M., … Link, M. S. (2013). Prevention of Sudden Cardiac Death With Implantable Cardioverter-Defibrillators in Children and Adolescents With Hypertrophic Cardiomyopathy. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(14), 1527–1535. -
Taming Rare Variation With Known Biology in Long QT Syndrome.
Perez, M. V., & Ashley, E. A. (2013). Taming Rare Variation With Known Biology in Long QT Syndrome. Circulation. Cardiovascular Genetics, 6(3), 227–229. -
The prevalence and prognostic significance of electrocardiographic abnormalities
Ashley, E. A., Raxwal, V. K., & Froelicher, V. F. (2000). The prevalence and prognostic significance of electrocardiographic abnormalities. CURRENT PROBLEMS IN CARDIOLOGY, 25(1), 7–72. -
A meta-analysis of the prognostic significance of cardiopulmonary exercise testing in patients with heart failure
Cahalin, L. P., Chase, P., Arena, R., Myers, J., Bensimhon, D., Peberdy, M. A., … Guazzi, M. (2013). A meta-analysis of the prognostic significance of cardiopulmonary exercise testing in patients with heart failure. HEART FAILURE REVIEWS, 18(1), 79–94. -
Impact of Cardiorespiratory Fitness on the Obesity Paradox in Patients With Heart Failure
Lavie, C. J., Cahalin, L. P., Chase, P., Myers, J., Bensimhon, D., Peberdy, M. A., … Arena, R. (2013). Impact of Cardiorespiratory Fitness on the Obesity Paradox in Patients With Heart Failure. MAYO CLINIC PROCEEDINGS, 88(3), 251–258. -
Physical Activity and Other Health Behaviors in Adults With Hypertrophic Cardiomyopathy
Reineck, E., Rolston, B., Bragg-Gresham, J. L., Salberg, L., Baty, L., Kumar, S., … Day, S. M. (2013). Physical Activity and Other Health Behaviors in Adults With Hypertrophic Cardiomyopathy. AMERICAN JOURNAL OF CARDIOLOGY, 111(7), 1034–39. -
The prognostic significance of heart rate recovery is not dependent upon maximal effort in patients with heart failure
Cahalin, L. P., Forman, D. E., Chase, P., Guazzi, M., Myers, J., Bensimhon, D., … Arena, R. (2013). The prognostic significance of heart rate recovery is not dependent upon maximal effort in patients with heart failure. INTERNATIONAL JOURNAL OF CARDIOLOGY, 168(2), 1496–1501. -
Prevalence and clinical correlates of right ventricular dysfunction in patients with hypertrophic cardiomyopathy.
Finocchiaro, G., Knowles, J. W., Pavlovic, A., Perez, M., Magavern, E., Sinagra, G., … Ashley, E. A. (2014). Prevalence and clinical correlates of right ventricular dysfunction in patients with hypertrophic cardiomyopathy. American Journal of Cardiology, 113(2), 361–67. -
Exercise capacity and paroxysmal atrial fibrillation in patients with hypertrophic cardiomyopathy.
Azarbal, F., Singh, M., Finocchiaro, G., Le, V.-V., Schnittger, I., Wang, P., … Perez, M. (2014). Exercise capacity and paroxysmal atrial fibrillation in patients with hypertrophic cardiomyopathy. Heart , 100(8), 624–30. -
Patterns and prognosis of all components of the J-wave pattern in multiethnic athletes and ambulatory patients.
Muramoto, D., Yong, C. M., Singh, N., Aggarwal, S., Perez, M., Ashley, E., … Froelicher, V. (2014). Patterns and prognosis of all components of the J-wave pattern in multiethnic athletes and ambulatory patients. American Heart Journal, 167(2), 259–66. -
A neural network approach to predicting outcomes in heart failure using cardiopulmonary exercise testing
Myers, J., de Souza, C. R., Borghi-Silva, A., Guazzi, M., Chase, P., Bensimhon, D., … Arena, R. (2014). A neural network approach to predicting outcomes in heart failure using cardiopulmonary exercise testing. INTERNATIONAL JOURNAL OF CARDIOLOGY, 171(2), 265–69. -
Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement.
Finocchiaro, G., Murphy, D., Pavlovic, A., Haddad, F., Shiran, H., Sinagra, G., … Knowles, J. W. (2014). Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement. Echocardiography (Mount Kisco, N.Y.), 31(3), E80–4. -
Clinical interpretation and implications of whole-genome sequencing.
Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., … Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA, 311(10), 1035–45. -
Rat model of veno-arterial extracorporeal membrane oxygenation.
Ali, A. A., Downey, P., Singh, G., Qi, W., George, I., Takayama, H., … Ali, Z. A. (2014). Rat model of veno-arterial extracorporeal membrane oxygenation. Journal of Translational Medicine, 12, 37-? -
Whole-Exome Sequencing Reveals TopBP1 as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension
Perez, V. A. J., Yuan, K., Lyuksyutova, M. A., Dewey, F., Orcholski, M. E., Shuffle, E. M., … Zamanian, R. T. (2014). Whole-Exome Sequencing Reveals TopBP1 as a Novel Gene in Idiopathic Pulmonary Arterial Hypertension. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 189(10), 1260–72. -
Latent obstruction and left atrial size are predictors of clinical deterioration leading to septal reduction in hypertrophic cardiomyopathy.
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Schnittger, I., Knowles, J. W., … Ashley, E. (2014). Latent obstruction and left atrial size are predictors of clinical deterioration leading to septal reduction in hypertrophic cardiomyopathy. Journal of Cardiac Failure, 20(4), 236–43. -
Guidelines for investigating causality of sequence variants in human disease
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., … Gunter, C. (2014). Guidelines for investigating causality of sequence variants in human disease. NATURE, 508(7497), 469–76. -
How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience.
Finocchiaro, G., Haddad, F., Pavlovic, A., Magavern, E., Sinagra, G., Knowles, J. W., … Ashley, E. A. (2014). How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience. BMJ Open, 4(6). -
Is stress cardiomyopathy the underlying cause of ventricular dysfunction associated with brain death?
Berman, M., Ali, A., Ashley, E., Freed, D., Clarke, K., Tsui, S., … Large, S. (2010). Is stress cardiomyopathy the underlying cause of ventricular dysfunction associated with brain death? JOURNAL OF HEART AND LUNG TRANSPLANTATION, 29(9), 957–965. -
Identification of a new target of miR-16, Vacuolar Protein Sorting 4a.
Adhikari, N., Guan, W., Capaldo, B., Mackey, A. J., Carlson, M., Ramakrishnan, S., … Hall, J. L. (2014). Identification of a new target of miR-16, Vacuolar Protein Sorting 4a. PloS One, 9(7). -
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.
Priest, J. R., Ceresnak, S. R., Dewey, F. E., Malloy-Walton, L. E., Dunn, K., Grove, M. E., … Ashley, E. A. (2014). Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing. Heart Rhythm , 11(10), 1707–13. -
Clinical interpretation and implications of whole-genome sequencing.
Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., … Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA : the Journal of the American Medical Association, 311(10), 1035–45. -
Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement.
Finocchiaro, G., Murphy, D., Pavlovic, A., Haddad, F., Shiran, H., Sinagra, G., … Knowles, J. W. (2014). Unexplained double-chambered left ventricle associated with contracting right ventricular aneurysm and right atrial enlargement. Echocardiography (Mount Kisco, N.Y.), 31(3), E80–4. -
Effects of respiratory exchange ratio on the prognostic value of peak oxygen consumption and ventilatory efficiency in patients with systolic heart failure.
Chase, P. J., Kenjale, A., Cahalin, L. P., Arena, R., Davis, P. G., Myers, J., … Bensimhon, D. R. (2013). Effects of respiratory exchange ratio on the prognostic value of peak oxygen consumption and ventilatory efficiency in patients with systolic heart failure. JACC. Heart Failure, 1(5), 427–32. -
Emerging role of the apelin system in cardiovascular homeostasis
Chong, K. S., Gardner, R. S., Ashley, E. A., Dargie, H. J., & McDonagh, T. A. (2007). Emerging role of the apelin system in cardiovascular homeostasis. BIOMARKERS IN MEDICINE, 1(1), 37–43. -
A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care.
Boyd, S. D., Galli, S. J., Schrijver, I., Zehnder, J. L., Ashley, E. A., & Merker, J. D. (2014). A Balanced Look at the Implications of Genomic (and Other "Omics") Testing for Disease Diagnosis and Clinical Care. Genes, 5(3), 748–66. -
Long-term outcomes of septal reduction for obstructive hypertrophic cardiomyopathy.
Sedehi, D., Finocchiaro, G., Tibayan, Y., Chi, J., Pavlovic, A., Kim, Y. M., … Ashley, E. A. (2015). Long-term outcomes of septal reduction for obstructive hypertrophic cardiomyopathy. Journal of Cardiology, 66(1), 57–62. -
Stable, Covalent Attachment of Laminin to Microposts Improves the Contractility of Mouse Neonatal Cardiomyocytes
Ribeiro, A. J. S., Zaleta-Rivera, K., Ashley, E. A., & Pruitt, B. L. (2014). Stable, Covalent Attachment of Laminin to Microposts Improves the Contractility of Mouse Neonatal Cardiomyocytes. ACS APPLIED MATERIALS & INTERFACES, 6(17), 15516–26. -
Oxido-reductive regulation of vascular remodeling by receptor tyrosine kinase ROS1
Ali, Z. A., Perez, V. D. J., Yuan, K., Orcholski, M., Pan, S., Qi, W., … Ashley, E. A. (2014). Oxido-reductive regulation of vascular remodeling by receptor tyrosine kinase ROS1. JOURNAL OF CLINICAL INVESTIGATION, 124(12), 5159–74. -
Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions.
Bouchard, C., Antunes-Correa, L. M., Ashley, E. A., Franklin, N., Hwang, P. M., Mattsson, C. M., … Wheeler, M. T. (2015). Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions. Progress in Cardiovascular Diseases, 57(4), 337–46. -
Cardiopulmonary responses and prognosis in hypertrophic cardiomyopathy: a potential role for comprehensive noninvasive hemodynamic assessment.
Finocchiaro, G., Haddad, F., Knowles, J. W., Caleshu, C., Pavlovic, A., Homburger, J., … Ashley, E. A. (2015). Cardiopulmonary responses and prognosis in hypertrophic cardiomyopathy: a potential role for comprehensive noninvasive hemodynamic assessment. JACC. Heart Failure, 3(5), 408–18. -
Limitations of Current AHA Guidelines and Proposal of New Guidelines for the Preparticipation Examination of Athletes
Dunn, T. P., Pickham, D., Aggarwal, S., Saini, D., Kumar, N., Wheeler, M. T., … Froelicher, V. F. (2015). Limitations of Current AHA Guidelines and Proposal of New Guidelines for the Preparticipation Examination of Athletes. CLINICAL JOURNAL OF SPORT MEDICINE, 25(6), 472–77. -
Predominance of normal left ventricular geometry in the male 'athlete's heart'
Utomi, V., Oxborough, D., Ashley, E., Lord, R., Fletcher, S., Stembridge, M., … George, K. (2014). Predominance of normal left ventricular geometry in the male 'athlete's heart'. HEART, 100(16), 1264-? -
The right ventricle following ultra-endurance exercise: insights from novel echocardiography and 12-lead electrocardiography
Lord, R., Somauroo, J., Stembridge, M., Jain, N., Hoffman, M. D., George, K., … Oxborough, D. (2015). The right ventricle following ultra-endurance exercise: insights from novel echocardiography and 12-lead electrocardiography. EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY, 115(1), 71–80. -
Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations
Coppini, R., Ho, C. Y., Ashley, E., Day, S., Ferrantini, C., Girolami, F., … Olivotto, I. (2014). Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 64(24), 2589–2600. -
RNA-Seq identifies novel myocardial gene expression signatures of heart failure
Liu, Y., Morley, M., Brandimarto, J., Hannenhalli, S., Hu, Y., Ashley, E. A., … Consortium, M. A. G. N. (2015). RNA-Seq identifies novel myocardial gene expression signatures of heart failure. GENOMICS, 105(2), 83–89. -
ClinGen - The Clinical Genome Resource
Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., … Watson, M. S. (2015). ClinGen - The Clinical Genome Resource. NEW ENGLAND JOURNAL OF MEDICINE, 372(23), 2235–42. -
The precision medicine initiative: a new national effort.
Ashley, E. A. (2015). The precision medicine initiative: a new national effort. JAMA, 313(21), 2119–20. -
Hypertrophic cardiomyopathy: can the horse be put back in the barn?
Wheeler, M. T., & Ashley, E. A. (2015). Hypertrophic cardiomyopathy: can the horse be put back in the barn? Journal of the American College of Cardiology, 65(6), 570–72. -
Using "big data" to dissect clinical heterogeneity.
Altman, R. B., & Ashley, E. A. (2015). Using "big data" to dissect clinical heterogeneity. Circulation, 131(3), 232–33. -
Systematic Comparison of Digital Electrocardiograms From Healthy Athletes and Patients With Hypertrophic Cardiomyopathy.
Bent, R. E., Wheeler, M. T., Hadley, D., Knowles, J. W., Pavlovic, A., Finocchiaro, G., … Perez, M. V. (2015). Systematic Comparison of Digital Electrocardiograms From Healthy Athletes and Patients With Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology, 65(22), 2462–63. -
Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy
Finocchiaro, G., Kobayashi, Y., Magavern, E., Zhou, J. Q., Ashley, E., Sinagra, G., … Tremmel, J. A. (2015). Prevalence and Prognostic Role of Right Ventricular Involvement in Stress-Induced Cardiomyopathy. JOURNAL OF CARDIAC FAILURE, 21(5), 419–25. -
Computerized Q wave dimensions in athletes and hypertrophic cardiomyopathy patients
Bent, R. E., Wheeler, M. T., Hadley, D., Froelicher, V., Ashley, E., & Perez, M. V. (2015). Computerized Q wave dimensions in athletes and hypertrophic cardiomyopathy patients. JOURNAL OF ELECTROCARDIOLOGY, 48(3), 362–67. -
INHERIT (INHibition of the renin angiotensin system in hypertrophic cardiomyopathy and the Effect on hypertrophy-a Randomised Intervention Trial with losartan).
Olivotto, I., & Ashley, E. A. (2015). INHERIT (INHibition of the renin angiotensin system in hypertrophic cardiomyopathy and the Effect on hypertrophy-a Randomised Intervention Trial with losartan). Global Cardiology Science & Practice, 2015, 7-? -
The impact of chronic endurance and resistance training upon the right ventricular phenotype in male athletes.
Utomi, V., Oxborough, D., Ashley, E., Lord, R., Fletcher, S., Stembridge, M., … George, K. (2015). The impact of chronic endurance and resistance training upon the right ventricular phenotype in male athletes. European Journal of Applied Physiology, 115(8), 1673–82. -
A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.
Wilson, K. D., Shen, P., Fung, E., Karakikes, I., Zhang, A., Inanloorahatloo, K., … Wu, J. C. (2015). A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases. Circulation Research, 117(7), 603–11. -
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan, A., Harris, J., Leng, N., Bartha, G., Church, D. M., Luo, S., … Chen, R. (2015). Achieving high-sensitivity for clinical applications using augmented exome sequencing. Genome Medicine, 7(1), 71-? -
Achieving high-sensitivity for clinical applications using augmented exome sequencing
Patwardhan, A., Harris, J., Leng, N., Bartha, G., Church, D. M., Luo, S., … Chen, R. (2015). Achieving high-sensitivity for clinical applications using augmented exome sequencing. GENOME MEDICINE, 7. -
How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience.
Finocchiaro, G., Haddad, F., Pavlovic, A., Magavern, E., Sinagra, G., Knowles, J. W., … Ashley, E. A. (2014). How does morphology impact on diastolic function in hypertrophic cardiomyopathy? A single centre experience. BMJ Open, 4(6). -
Identification of a New Target of miR-16, Vacuolar Protein Sorting 4a.
Adhikari, N., Guan, W., Capaldo, B., Mackey, A. J., Carlson, M., Ramakrishnan, S., … Hall, J. L. (2014). Identification of a New Target of miR-16, Vacuolar Protein Sorting 4a. PloS One, 9(7). -
A long noncoding RNA protects the heart from pathological hypertrophy.
Han, P., Li, W., Lin, C.-H., Yang, J., Shang, C., Nurnberg, S. T., … Chang, C.-P. (2014). A long noncoding RNA protects the heart from pathological hypertrophy. Nature, 514(7520), 102–6. -
Interpreting whole-genome sequencing--reply.
Dewey, F., Ashley, E., & Quertermous, T. (2014). Interpreting whole-genome sequencing--reply. JAMA, 312(3), 296–297. -
Stable, covalent attachment of laminin to microposts improves the contractility of mouse neonatal cardiomyocytes.
Ribeiro, A. J. S., Zaleta-Rivera, K., Ashley, E. A., & Pruitt, B. L. (2014). Stable, covalent attachment of laminin to microposts improves the contractility of mouse neonatal cardiomyocytes. ACS Applied Materials & Interfaces, 6(17), 15516–26. -
Comparison of left ventricular manual versus automated derived longitudinal strain: implications for clinical practice and research
Kobayashi, Y., Ariyama, M., Kobayashi, Y., Giraldeau, G., Fleischman, D., Kozelj, M., … Haddad, F. (2016). Comparison of left ventricular manual versus automated derived longitudinal strain: implications for clinical practice and research. INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING, 32(3), 429–37. -
Gender Differences in Ventricular Remodeling and Function in College Athletes, Insights from Lean Body Mass Scaling and Deformation Imaging
Giraldeau, G., Kobayashi, Y., Finocchiaro, G., Wheeler, M., Perez, M., Kuznetsova, T., … Haddad, F. (2015). Gender Differences in Ventricular Remodeling and Function in College Athletes, Insights from Lean Body Mass Scaling and Deformation Imaging. AMERICAN JOURNAL OF CARDIOLOGY, 116(10), 1610–16. -
Hypertrophic Cardiomyopathy as a Cause of Sudden Cardiac Death in the Young: A Meta-Analysis
Ullal, A. J., Abdelfattah, R. S., Ashley, E. A., & Froelicher, V. F. (2016). Hypertrophic Cardiomyopathy as a Cause of Sudden Cardiac Death in the Young: A Meta-Analysis. AMERICAN JOURNAL OF MEDICINE, 129(5), 486-? -
Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure
Perez, M. V., Pavlovic, A., Shang, C., Wheeler, M. T., Miller, C. L., Liu, J., … Ashley, E. A. (2015). Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 66(22), 2522–33. -
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
Pan, S., Sommese, R. F., Sallam, K. I., Nag, S., Sutton, S., Miller, S. M., … Ashley, E. A. (2015). Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. BMC Medical Genetics, 16(1), 97-? -
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Dewey, F. E., Grove, M. E., Priest, J. R., Waggott, D., Batra, P., Miller, C. L., … Ashley, E. A. (2015). Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data. PLOS GENETICS, 11(10). -
Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement
Webborn, N., Williams, A., McNamee, M., Bouchard, C., Pitsiladis, Y., Ahmetov, I., … Wang, G. (2015). Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement. BRITISH JOURNAL OF SPORTS MEDICINE, 49(23), 1486–91. -
Redox regulation of vascular remodeling
Galougahi, K. K., Ashley, E. A., & Ali, Z. A. (2016). Redox regulation of vascular remodeling. CELLULAR AND MOLECULAR LIFE SCIENCES, 73(2), 349–63. -
Impact of Septal Reduction on Left Atrial Size and Diastole in Hypertrophic Cardiomyopathy
Finocchiaro, G., Haddad, F., Kobayashi, Y., Lee, D., Pavlovic, A., Schnittger, I., … Ashley, E. (2016). Impact of Septal Reduction on Left Atrial Size and Diastole in Hypertrophic Cardiomyopathy. ECHOCARDIOGRAPHY-A JOURNAL OF CARDIOVASCULAR ULTRASOUND AND ALLIED TECHNIQUES, 33(5), 686–94. -
Medical implications of technical accuracy in genome sequencing.
Goldfeder, R. L., Priest, J. R., Zook, J. M., Grove, M. E., Waggott, D., Wheeler, M. T., … Ashley, E. A. (2016). Medical implications of technical accuracy in genome sequencing. Genome Medicine, 8(1), 24-? -
Sports genetics moving forward: lessons learned from medical research.
Mattsson, C. M., Wheeler, M. T., Waggott, D., Caleshu, C., & Ashley, E. A. (2016). Sports genetics moving forward: lessons learned from medical research. Physiological Genomics, 48(3), 175–82. -
Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance.
Pitsiladis, Y. P., Tanaka, M., Eynon, N., Bouchard, C., North, K. N., Williams, A. G., … Alsayrafi, M. (2016). Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance. Physiological Genomics, 48(3), 183–90. -
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest, J. R., Osoegawa, K., Mohammed, N., Nanda, V., Kundu, R., Schultz, K., … Ashley, E. A. (2016). De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS Genetics, 12(4). -
A research roadmap for next-generation sequencing informatics
Altman, R. B., Prabhu, S., Sidow, A., Zook, J. M., Goldfeder, R., Litwack, D., … Kass-Hout, T. (2016). A research roadmap for next-generation sequencing informatics. SCIENCE TRANSLATIONAL MEDICINE, 8(335). -
Multidimensional structure-function relationships in human beta-cardiac myosin from population-scale genetic variation
Homburger, J. R., Green, E. M., Caleshu, C., Sunitha, M. S., Taylor, R. E., Ruppel, K. M., … Ashley, E. A. (2016). Multidimensional structure-function relationships in human beta-cardiac myosin from population-scale genetic variation. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 113(24), 6701–6. -
The Future of Genomic Research in Athletic Performance and Adaptation to Training.
Wang, G., Tanaka, M., Eynon, N., North, K. N., Williams, A. G., Collins, M., … Pitsiladis, Y. P. (2016). The Future of Genomic Research in Athletic Performance and Adaptation to Training. Medicine and Sport Science, 61, 55–67. -
In Vivo Post-Cardiac Arrest Myocardial Dysfunction Is Supported by Ca2+/Calmodulin-Dependent Protein Kinase II-Mediated Calcium Long-Term Potentiation and Mitigated by Alda-1, an Agonist of Aldehyde Dehydrogenase Type 2.
Woods, C. E., Shang, C., Taghavi, F., Downey, P., Zalewski, A., Rubio, G. R., … Ashley, E. A. (2016). In Vivo Post-Cardiac Arrest Myocardial Dysfunction Is Supported by Ca2+/Calmodulin-Dependent Protein Kinase II-Mediated Calcium Long-Term Potentiation and Mitigated by Alda-1, an Agonist of Aldehyde Dehydrogenase Type 2. Circulation, 134(13), 961–77. -
Towards precision medicine.
Ashley, E. A. (2016). Towards precision medicine. Nature Reviews. Genetics, 17(9), 507–522. -
Taming the genome: towards better genetic test interpretation
Caleshu, C., & Ashley, E. A. (2016). Taming the genome: towards better genetic test interpretation. GENOME MEDICINE, 8. -
The Undiagnosed Diseases Network of the National Institutes of Health A National Extension
Gahl, W. A., Wise, A. L., & Ashley, E. A. (2015). The Undiagnosed Diseases Network of the National Institutes of Health A National Extension. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 314(17), 1797–98. -
Alterations in Cardiac Mechanics Following Ultra-Endurance Exercise: Insights from Left and Right Ventricular Area-Deformation Loops.
Lord, R., George, K., Somauroo, J., Stembridge, M., Jain, N., Hoffman, M. D., … Oxborough, D. (2016). Alterations in Cardiac Mechanics Following Ultra-Endurance Exercise: Insights from Left and Right Ventricular Area-Deformation Loops. Journal of the American Society of Echocardiography , 29(9), 879–87 e1. -
Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.
Caleshu, C., Kasparian, N. A., Edwards, K. S., Yeates, L., Semsarian, C., Perez, M., … Ingles, J. (2016). Interdisciplinary psychosocial care for families with inherited cardiovascular diseases. Trends in Cardiovascular Medicine, 26(7), 647–53. -
Exploratory insights from the right-sided electrocardiogram following prolonged endurance exercise.
Lord, R., George, K., Somauroo, J., Jain, N., Reese, K., Hoffman, M. D., … Oxborough, D. (2016). Exploratory insights from the right-sided electrocardiogram following prolonged endurance exercise. European Journal of Sport Science, 16(8), 1014–22. -
Long-term outcomes of septal reduction for obstructive hypertrophic cardiomyopathy
Sedehi, D., Finocchiaro, G., Tibayan, Y., Chi, J., Pavlovic, A., Kim, Y. M., … Ashley, E. A. (2015). Long-term outcomes of septal reduction for obstructive hypertrophic cardiomyopathy. JOURNAL OF CARDIOLOGY, 66(1-2), 57–62. -
Deep Learning Automates the Quantitative Analysis of Individual Cells in Live-Cell Imaging Experiments.
Van Valen, D. A., Kudo, T., Lane, K. M., Macklin, D. N., Quach, N. T., DeFelice, M. M., … Covert, M. W. (2016). Deep Learning Automates the Quantitative Analysis of Individual Cells in Live-Cell Imaging Experiments. PLoS Computational Biology, 12(11). -
Early somatic mosaicism is a rare cause of long-QT syndrome
Priest, J. R., Gawad, C., Kahlig, K. M., Yu, J. K., O'Hara, T., Boyle, P. M., … Ashley, E. A. (2016). Early somatic mosaicism is a rare cause of long-QT syndrome. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 113(41), 11555–60. -
Effects of Respiratory Exchange Ratio on the Prognostic Value of Peak Oxygen Consumption and Ventilatory Efficiency in Patients With Systolic Heart Failure
Chase, P. J., Kenjale, A., Cahalin, L. P., Arena, R., Davis, P. G., Myers, J., … Bensimhon, D. R. (2013). Effects of Respiratory Exchange Ratio on the Prognostic Value of Peak Oxygen Consumption and Ventilatory Efficiency in Patients With Systolic Heart Failure. JACC-HEART FAILURE, 1(5), 427–32. -
in a patient with a complex connective tissue phenotype.
Zastrow, D. B., Zornio, P. A., Dries, A., Kohler, J., Fernandez, L., Waggott, D., … Wheeler, M. T. (2017). in a patient with a complex connective tissue phenotype. Cold Spring Harbor Molecular Case Studies, 3(1). -
Effect of Moderate-Intensity Exercise Training on Peak Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy A Randomized Clinical Trial
Saberi, S., Wheeler, M., Bragg-Gresham, J., Hornsby, W., Agarwal, P. P., Attili, A., … Day, S. M. (2017). Effect of Moderate-Intensity Exercise Training on Peak Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy A Randomized Clinical Trial. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 317(13), 1349–57. -
Left atrial function and phenotypes in asymmetric hypertrophic cardiomyopathy.
Kobayashi, Y., Wheeler, M., Finocchiaro, G., Ariyama, M., Kobayashi, Y., Perez, M. V., … Haddad, F. (2017). Left atrial function and phenotypes in asymmetric hypertrophic cardiomyopathy. Echocardiography (Mount Kisco, N.Y.). -
Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study.
McConnell, M. V., Shcherbina, A., Pavlovic, A., Homburger, J. R., Goldfeder, R. L., Waggot, D., … Ashley, E. A. (2017). Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study. JAMA Cardiology, 2(1), 67–76. -
Functional assessment and transplantation of the donor heart after circulatory death
Messer, S. J., Axell, R. G., Colah, S., White, P. A., Ryan, M., Page, A. A., … Large, S. R. (2016). Functional assessment and transplantation of the donor heart after circulatory death. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 35(12), 1443–52. -
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Ramoni, R. B., Mulvihill, J. J., Adams, D. R., Allard, P., Ashley, E. A., Bernstein, J. A., … Wise, A. L. (2017). The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. AMERICAN JOURNAL OF HUMAN GENETICS, 100(2), 185–92. -
Orexin: a Missing Link Between Sleep Disorders and Heart Failure?
Pan, S., Cabral, C. S., Ashley, E. A., & Perez, M. V. (2017). Orexin: a Missing Link Between Sleep Disorders and Heart Failure? Current Heart Failure Reports. -
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Merker, J. D., Wenger, A. M., Sneddon, T., Grove, M., Zappala, Z., Fresard, L., … Ashley, E. A. (2017). Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
The Changing Face of Informed Consent
Grady, C., Cummings, S. R., Rowbotham, M. C., McConnell, M. V., Ashley, E. A., & Kang, G. (2017). The Changing Face of Informed Consent. NEW ENGLAND JOURNAL OF MEDICINE, 376(9), 856–67. -
Effect of lossy compression of quality scores on variant calling
Ochoa, I., Hernaez, M., Goldfeder, R., Weissman, T., & Ashley, E. (2017). Effect of lossy compression of quality scores on variant calling. BRIEFINGS IN BIOINFORMATICS, 18(2), 183–94. -
A comparison of methods for determining the ventilatory threshold: implications for surgical risk stratification
Vainshelboim, B., Rao, S., Chan, K., Lima, R. M., Ashley, E. A., & Myers, J. (2017). A comparison of methods for determining the ventilatory threshold: implications for surgical risk stratification. CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE, 64(6), 634–42. -
Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort.
Shcherbina, A., Mattsson, C. M., Waggott, D., Salisbury, H., Christle, J. W., Hastie, T., … Ashley, E. A. (2017). Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort. Journal of Personalized Medicine, 7(2). -
Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine.
Harper, A. R., Parikh, V. N., Goldfeder, R. L., Caleshu, C., & Ashley, E. A. (2017). Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine. Circulation. Cardiovascular Genetics, 10(2). -
HapIso: An Accurate Method for the Haplotype-Specific Isoforms Reconstruction From Long Single-Molecule Reads
Mangul, S., Yang, T. (H., Hormozdiari, F., Dainis, A. M., Tseng, E., Ashley, E. A., … Eskin, E. (2017). HapIso: An Accurate Method for the Haplotype-Specific Isoforms Reconstruction From Long Single-Molecule Reads. IEEE TRANSACTIONS ON NANOBIOSCIENCE, 16(2), 108–15. -
Contractile reserve and cardiopulmonary exercise parameters in patients with dilated cardiomyopathy, the two dimensions of exercise testing.
Moneghetti, K. J., Kobayashi, Y., Christle, J. W., Ariyama, M., Vrtovec, B., Kouznetsova, T., … Haddad, F. (2017). Contractile reserve and cardiopulmonary exercise parameters in patients with dilated cardiomyopathy, the two dimensions of exercise testing. Echocardiography (Mount Kisco, N.Y.). -
Incremental value of right heart metrics and exercise performance to well-validated risk scores in dilated cardiomyopathy
Moneghetti, K. J., Giraldeau, G., Wheeler, M. T., Kobayashi, Y., Vrtovec, B., Boulate, D., … Haddad, F. (2017). Incremental value of right heart metrics and exercise performance to well-validated risk scores in dilated cardiomyopathy . European Heart Journal - Cardiovascular Imaging . -
Max: Analysis from the Fitness Registry and the Importance of Exercise National Database (FRIEND Registry).
Myers, J., Kaminsky, L. A., Lima, R., Christle, J., Ashley, E., & Arena, R. (2017). Max: Analysis from the Fitness Registry and the Importance of Exercise National Database (FRIEND Registry). Progress in Cardiovascular Diseases. -
Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study.
Knowles, J. W., Zarafshar, S., Pavlovic, A., Goldstein, B. A., Tsai, S., Li, J., … Assimes, T. L. (2017). Impact of a Genetic Risk Score for Coronary Artery Disease on Reducing Cardiovascular Risk: A Pilot Randomized Controlled Study. Frontiers in Cardiovascular Medicine, 4, 53. -
Effect of lossy compression of quality scores on variant calling.
Ochoa, I., Hernaez, M., Goldfeder, R., Weissman, T., & Ashley, E. (2017). Effect of lossy compression of quality scores on variant calling. Briefings in Bioinformatics, 18(2), 183–94. -
Informed Consent.
Grady, C., Cummings, S. R., Rowbotham, M. C., McConnell, M. V., Ashley, E. A., & Kang, G. (2017). Informed Consent. New England Journal of Medicine, 376(9), 856–67. -
Incremental value of right heart metrics and exercise performance to well-validated risk scores in dilated cardiomyopathy.
Moneghetti, K. J., Giraldeau, G., Wheeler, M. T., Kobayashi, Y., Vrtovec, B., Boulate, D., … Haddad, F. (2017). Incremental value of right heart metrics and exercise performance to well-validated risk scores in dilated cardiomyopathy. European Heart Journal Cardiovascular Imaging. -
Value of Strain Imaging and Maximal Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy.
Moneghetti, K. J., Stolfo, D., Christle, J. W., Kobayashi, Y., Finocchiaro, G., Sinagra, G., … Wheeler, M. T. (2017). Value of Strain Imaging and Maximal Oxygen Consumption in Patients With Hypertrophic Cardiomyopathy. The American Journal of Cardiology, 120(7), 1203–8. -
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter, C. M., Brimble, E., DeFilippo, C., Dries, A. M., Enns, G. M., Ashley, E. A., … Wheeler, M. T. (2018). A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. The Journal of Pediatrics. -
Athletic Remodeling in Female College Athletes, the "Morganroth Hypothesis" Revisited.
Kooreman, Z., Giraldeau, G., Finocchiaro, G., Kobayashi, Y., Wheeler, M., Perez, M., … Haddad, F. (2018). Athletic Remodeling in Female College Athletes, the "Morganroth Hypothesis" Revisited. Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine. -
Aldehyde dehydrogenase activator attenuates diabetic cardiomyopathy; a role in improving the quality of resident cardiac stem cells?
Palaniyandi, S. S., Disatnik, M.-H., Sun, L., Vishnumangalam, J. J., Xia, X., Pavlovic, A., … Mochly-Rosen, D. (2010). Aldehyde dehydrogenase activator attenuates diabetic cardiomyopathy; a role in improving the quality of resident cardiac stem cells? FASEB JOURNAL, 24. -
Report from the Annual Conference of the British Society of Echocardiography, November 2016, Queen Elizabeth II Conference Centre, London
Steeds, R. P., Cowie, M. R., Rana, B. S., Chambers, J. B., Ray, S., Srinivasan, J., … Russhard, P. (2017). Report from the Annual Conference of the British Society of Echocardiography, November 2016, Queen Elizabeth II Conference Centre, London. ECHO RESEARCH AND PRACTICE, 4(3), M1–M16. -
The cardiovascular regulator apelin is an angiogenic factor in vivo
Kundu, R. K., Eichhorn, J., Chen, M., Ho, Y. D., Ashley, E., Varner, J., … Quertermous, T. (2004). The cardiovascular regulator apelin is an angiogenic factor in vivo. CIRCULATION, 110(17), 173. -
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
Olahova, M., Yoon, W. H., Thompson, K., Jangam, S., Fernandez, L., Davidson, J. M., … Wheeler, M. T. (2018). Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. AMERICAN JOURNAL OF HUMAN GENETICS, 102(3), 494–504. -
Activation of Aldehyde Dehydrogenase Type 2 (ALDH2) by Alda-1 Significantly Enhances the Function of the DCD Heart
Taghavi, F. J., Thanaporn, P. K., Woods, C. E., Ali, A., Large, S. R., Chen, C., … Ashley, E. (2012). Activation of Aldehyde Dehydrogenase Type 2 (ALDH2) by Alda-1 Significantly Enhances the Function of the DCD Heart. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 31(4), S40. -
RV remodeling in college athletes engaged in mixed strength and endurance training: do the current echocardiographic reference values apply?
Finocchiaro, G., Knowles, J. W., Perez, M., Schnittger, I., Magavern, E., Puryear, J., … Haddad, F. (2014). RV remodeling in college athletes engaged in mixed strength and endurance training: do the current echocardiographic reference values apply? EUROPEAN HEART JOURNAL, 35, 729–30. -
Exercise capacity in patients with hypertrophic cardiomyopathy: non-invasive hemodynamic responses to exercise and association with clinical and imaging variables
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Wong, M., Knowles, J. K., … Ashley, E. (2013). Exercise capacity in patients with hypertrophic cardiomyopathy: non-invasive hemodynamic responses to exercise and association with clinical and imaging variables. EUROPEAN HEART JOURNAL, 34, 532–33. -
Prognostic role of exercise echocardiography in patients with hypertrophic cardiomyopathy
Finocchiaro, G., Haddad, F., Pavlovic, A., Sinagra, G., Magavern, E., Knowles, J. K., & Ashley, E. (2013). Prognostic role of exercise echocardiography in patients with hypertrophic cardiomyopathy. EUROPEAN HEART JOURNAL, 34, 167. -
Impact of latent obstruction on exercise tolerance in hypertrophic cardiomyopathy
Finocchiaro, G., Haddad, F., Knowles, J. W., Pavlovic, A., Sinagra, G., Magavern, E., … Ashley, E. A. (2014). Impact of latent obstruction on exercise tolerance in hypertrophic cardiomyopathy. EUROPEAN HEART JOURNAL, 35, 927. -
The Independent Predictive Value of Peak Oxygen Consumption, Left ventricular Strain and Atrial Remodelling in Patients With Dilated Cardiomyopathy
Boulate, D., Banerjee, D., Ariyama, M., Wheeler, M., Knowles, J. W., Kobayashi, Y., … Ashley, E. A. (2015). The Independent Predictive Value of Peak Oxygen Consumption, Left ventricular Strain and Atrial Remodelling in Patients With Dilated Cardiomyopathy. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 34(4), S186. -
MEDICATION COMMUNICATION PRACTICES BETWEEN PROVIDERS IN CARDIOLOGY
Tisdale, R., Ouyang, D., Cheng, P., Chi, J., Chen, J., & Ashley, E. (2018). MEDICATION COMMUNICATION PRACTICES BETWEEN PROVIDERS IN CARDIOLOGY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 71(11), 2644. -
Acetaminophen or Tylenol? A Retrospective Analysis of Medication Digital Communication Practices.
Ouyang, D., Tisdale, R., Ashley, E., Chi, J., & Chen, J. H. (2018). Acetaminophen or Tylenol? A Retrospective Analysis of Medication Digital Communication Practices. Journal of General Internal Medicine. -
Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis
Goldfeder, R. L., Wall, D. P., Khoury, M. J., Ioannidis, J. P. A., & Ashley, E. A. (2017). Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis. AMERICAN JOURNAL OF EPIDEMIOLOGY, 186(8), 1000–1009. -
Independent AV/VV pacing optimization requires operation along mechanical AV delay isochrones
Turcott, R. G., Witteles, R., Wang, P. J., & Ashley, E. A. (2008). Independent AV/VV pacing optimization requires operation along mechanical AV delay isochrones. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 51(10), A21. -
Impedance cardiography is superior to echocardiographic methods for pacing interval optimization
Turcott, R. G., Witteles, R. M., Wang, P. J., Vagelos, R. H., Fowler, M. B., & Ashley, E. A. (2008). Impedance cardiography is superior to echocardiographic methods for pacing interval optimization. JOURNAL OF CARDIAC FAILURE, 14(6), S65. -
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction
Rhee, J.-W., Grove, M. E., & Ashley, E. A. (2017). Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. CIRCULATION-CARDIOVASCULAR GENETICS, 10(4). -
THE RESUSCITATED NHBD HEART IS FUNCTIONALLY SUPERIOR TO THE BRAINSTEM DEAD DONOR HEART
Ali, A., Fajardo, G., Tsuda, S., Budas, G., Ali, Z., Quertermous, T., … Ashley, E. (2010). THE RESUSCITATED NHBD HEART IS FUNCTIONALLY SUPERIOR TO THE BRAINSTEM DEAD DONOR HEART. TRANSPLANT INTERNATIONAL, 23, 7. -
Genetic Variation Near HCRTR2 Associates With Dramatic Improvement of Heart Function in Patients With Heart Failure
Perez, M. V., Pavlovic, A., Wheeler, M. T., Miller, C. L., Thanaporn, P., Dewey, F. E., … Ashley, E. (2013). Genetic Variation Near HCRTR2 Associates With Dramatic Improvement of Heart Function in Patients With Heart Failure. CIRCULATION, 128(22). -
THE RESUSCITATED DECEASED DONOR HEART IS FUNCTIONALLY SUPERIOR TO THE BRAINSTEM DEAD DONOR HEART
Ali, A. A., Fajardo, G., Tsuda, S., Budas, G., Ali, Z., Quertermous, T., … Ashley, E. (2009). THE RESUSCITATED DECEASED DONOR HEART IS FUNCTIONALLY SUPERIOR TO THE BRAINSTEM DEAD DONOR HEART. TRANSPLANT INTERNATIONAL, 22, 138. -
Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition.
Parikh, V. N., Liu, J., Shang, C., Woods, C., Chang, A. C., Zhao, M., … Ashley, E. A. (2018). Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition. American Journal of Physiology. Heart and Circulatory Physiology. -
Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes.
Chen, A. S., Bent, R. E., Wheeler, M., Knowles, J. W., Haddad, F., Froelicher, V., … Perez, M. V. (2018). Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. Heart (British Cardiac Society). -
Applying current normative data to prognosis in heart failure: The Fitness Registry and the Importance of Exercise National Database (FRIEND)
Moneghetti, K. J., Hock, J., Kaminsky, L., Arena, R., Lui, G. K., Haddad, F., … Christle, J. W. (2018). Applying current normative data to prognosis in heart failure: The Fitness Registry and the Importance of Exercise National Database (FRIEND). INTERNATIONAL JOURNAL OF CARDIOLOGY, 263, 75–79. -
Load-dependent effects of apelin on murine cardiomyocytes
Peyronnet, R., Bollensdorff, C., Capel, R. A., Rog-Zielinska, E. A., Woods, C. E., Charo, D. N., … Kohl, P. (2017). Load-dependent effects of apelin on murine cardiomyocytes. PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY, 130, 333–43. -
A reference equation for maximal aerobic power for treadmill and cycle ergometer exercise testing: Analysis from the FRIEND registry
de Souza e Silva, C. G., Kaminsky, L. A., Arena, R., Christle, J. W., Araujo, C. G. S., Lima, R. M., … Myers, J. (2018). A reference equation for maximal aerobic power for treadmill and cycle ergometer exercise testing: Analysis from the FRIEND registry. EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY, 25(7), 742–50. -
A method for determining exercise oscillatory ventilation in heart failure: Prognostic value and practical implications
Vainshelboim, B., Amin, A., Christle, J. W., Hebbal, S., Ashley, E. A., & Myers, J. (2017). A method for determining exercise oscillatory ventilation in heart failure: Prognostic value and practical implications. INTERNATIONAL JOURNAL OF CARDIOLOGY, 249, 287–91. -
Ring Finger Protein 207 Degrades T613M Kv11.1 Channel
Ledford, H. A., Park, S., Sirish, P., Xu, W., Emigh, A. M., Timofeyev, V., … Chiamvimonvat, N. (2018). Ring Finger Protein 207 Degrades T613M Kv11.1 Channel. BIOPHYSICAL JOURNAL. CELL PRESS. -
Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation
Furqan, A., Arscott, P., Girolami, F., Cirino, A. L., Michels, M., Day, S. M., … Caleshu, C. (2017). Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation. CIRCULATION-CARDIOVASCULAR GENETICS, 10(5). -
A non-exercise based V02max prediction using FRIEND dataset with a Neural Network
Henriques, J., Carvalho, P., Rocha, T., Paredes, S., Cabiddu, R., Trimer, R., … Myers, J. (2017). A non-exercise based V02max prediction using FRIEND dataset with a Neural Network. 2017 39TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE AND BIOLOGY SOCIETY (EMBC), 4203–6. -
INTEGRATING CORRELATION BASED NETWORKS INTO RISK PROGNOSTICATION OF CARDIOMYOPATHY
Moneghetti, K. J., Kim, J., Kobayashi, Y., Boralkar, K., Wheeler, M., Ashley, E., & Haddad, F. (2018). INTEGRATING CORRELATION BASED NETWORKS INTO RISK PROGNOSTICATION OF CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. ELSEVIER SCIENCE INC. -
PHACOMATOSIS PIGMENTOVASCULARIS: A CASE WITH SOMATIC MUTATION IN GNAQ AND ATYPICAL PHENOTYPIC FEATURES
Kumar, A., Zastrow, D., Prybol, C., Manning, M., Huang, Y., Fisher, P., … Bernstein, J. (2018). PHACOMATOSIS PIGMENTOVASCULARIS: A CASE WITH SOMATIC MUTATION IN GNAQ AND ATYPICAL PHENOTYPIC FEATURES. JOURNAL OF INVESTIGATIVE MEDICINE, 66(1), 202. -
Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy
Finocchiaro, G., Magavem, E., Sinagra, G., Ashley, E., Papadakis, M., Tome-Esteban, M., … Olivotto, I. (2017). Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy. JOURNAL OF THE AMERICAN HEART ASSOCIATION, 6(12). -
Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
Tikkanen, E., Gustafsson, S., Amar, D., Shcherbina, A., Waggott, D., Ashley, E. A., & Ingelsson, E. (2018). Biological Insights Into Muscular Strength: Genetic Findings in the UK Biobank. SCIENTIFIC REPORTS, 8, 6451. -
Genetic Reduction in Left Ventricular Protein Kinase C-alpha and Adverse Ventricular Remodeling in Human Subjects
Hu, R., Morley, M. P., Brandimarto, J., Tucker, N. R., Parsons, V. A., Zhao, S. D., … Cappola, T. P. (2018). Genetic Reduction in Left Ventricular Protein Kinase C-alpha and Adverse Ventricular Remodeling in Human Subjects. CIRCULATION-CARDIOVASCULAR GENETICS, 11(3), e001901. -
Cardiovascular disease: The rise of the genetic risk score
Knowles, J. W., & Ashley, E. A. (2018). Cardiovascular disease: The rise of the genetic risk score. PLOS MEDICINE, 15(3), e1002546. -
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
DeBoever, C., Tanigawa, Y., Lindholm, M. E., McInnes, G., Lavertu, A., Ingelsson, E., … Rivas, M. A. (2018). Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. NATURE COMMUNICATIONS, 9, 1612. -
Right Ventricular Structure and Function in the Veteran Ultramarathon Runner: Is There Evidence for Chronic Maladaptation?
Rothwell, O., George, K., Somauroo, J., Lord, R., Stembridge, M., Shave, R., … Oxborough, D. (2018). Right Ventricular Structure and Function in the Veteran Ultramarathon Runner: Is There Evidence for Chronic Maladaptation? JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY, 31(5), 598-+. -
Rare Variation in Sarcomeric Genes Accompanies MYH7 Hypertrophic Cardiomyopathy
Caliri, S. J., Dewey, F. E., Grove, M. E., Priest, J., Shringarpure, S., Pan, C., … Ashley, E. A. (2013). Rare Variation in Sarcomeric Genes Accompanies MYH7 Hypertrophic Cardiomyopathy. CIRCULATION RESEARCH. LIPPINCOTT WILLIAMS & WILKINS. -
Mobile Health Advances in Physical Activity, Fitness, and Atrial Fibrillation Moving Hearts
McConnell, M. V., Turakhia, M. P., Harrington, R. A., King, A. C., & Ashley, E. A. (2018). Mobile Health Advances in Physical Activity, Fitness, and Atrial Fibrillation Moving Hearts. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 71(23), 2691–2701. -
Artificial Intelligence in Cardiology
Johnson, K. W., Soto, J. T., Glicksberg, B. S., Shameer, K., Miotto, R., Ali, M., … Dudley, J. T. (2018). Artificial Intelligence in Cardiology. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 71(23), 2668–79. -
Genome Sequencing in HypertrophicCardiomyopathy.
Ashley, E. A., Reuter, C. M., & Wheeler, M. T. (2018). Genome Sequencing in HypertrophicCardiomyopathy. Journal of the American College of Cardiology, 72(4), 430–33. -
Time based versus strain based myocardial performance indices in hypertrophic cardiomyopathy, the merging role of left atrial strain.
Kobayashi, Y., Moneghetti, K. J., Bouajila, S., Stolfo, D., Finocchiaro, G., Kuznetsova, T., … Haddad, F. (2018). Time based versus strain based myocardial performance indices in hypertrophic cardiomyopathy, the merging role of left atrial strain. European Heart Journal Cardiovascular Imaging. -
Cardiovascular Precision Medicine in the Genomics Era.
Dainis, A. M., & Ashley, E. A. (2018). Cardiovascular Precision Medicine in the Genomics Era. JACC. Basic to Translational Science, 3(2), 313–26. -
Telomere shortening is a hallmark of genetic cardiomyopathies.
Chang, A. C., Chang, A. C., Kirillova, A., Sasagawa, K., Su, W., Weber, G., … Blau, H. M. (2018). Telomere shortening is a hallmark of genetic cardiomyopathies. Proceedings of the National Academy of Sciences of the United States of America. -
What's in a Name? Factors That Influence the Usage of Generic Versus Trade Names for Cardiac Medications Among Healthcare Providers
Ouyang, D., Tisdale, R., Cheng, P., Chi, J., Chen, J. H., & Ashley, E. (2018). What's in a Name? Factors That Influence the Usage of Generic Versus Trade Names for Cardiac Medications Among Healthcare Providers. CIRCULATION-CARDIOVASCULAR QUALITY AND OUTCOMES, 11(8). -
Prevalence and Progression of Late Gadolinium Enhancement in Children and Adolescents With Hypertrophic Cardiomyopathy
Raja, A. A., Farhad, H., Valente, A. M., Couce, J.-P., Jefferies, J. L., Bundgaard, H., … Ho, C. Y. (2018). Prevalence and Progression of Late Gadolinium Enhancement in Children and Adolescents With Hypertrophic Cardiomyopathy. CIRCULATION, 138(8), 782–92. -
Examining Prevailing Genotype-Phenotype Correlations in Hypertrophic Cardiomyopathy: Findings From The Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Ho, C. Y., Day, S. M., Ashley, E. A., Michels, M., Pereira, A., Fox, J., … Olivotto, I. (2015). Examining Prevailing Genotype-Phenotype Correlations in Hypertrophic Cardiomyopathy: Findings From The Sarcomeric Human Cardiomyopathy Registry (SHaRe). CIRCULATION, 132(23), 2277. -
Phase 2 study of A797, an oral, selective p38 mitogen-activated protein kinase inhibitor, in patients with lamin A/C-related dilated cardiomyopathy
MacRae, C., Taylor, M. R. G., Mestroni, L., Moses, J. R., Ashley, E. A., Wheeler, M. T., … Judge, D. P. (2016). Phase 2 study of A797, an oral, selective p38 mitogen-activated protein kinase inhibitor, in patients with lamin A/C-related dilated cardiomyopathy. EUROPEAN HEART JOURNAL, 37, 1011. -
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., … Ashley, E. A. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. The New England Journal of Medicine. -
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)
Ho, C. Y., Day, S. M., Ashley, E. A., Michels, M., Pereira, A. C., Jacoby, D., … Olivotto, I. (2018). Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe). CIRCULATION, 138(14), 1387–98. -
Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy.
Lee, S.-P., Ashley, E. A., Homburger, J., Caleshu, C., Green, E. M., Jacoby, D., … Perez, M. V. (2018). Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy. Circulation. Heart Failure, 11(9), e005191. -
INTERDISCIPLINARY PERIPARTUM CARE OF THE PATIENT WITH DIASTOLIC HEART FAILURE IN NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY
Beutner, K., Ashley, E., Wheeler, M., Parikh, V., Wheeler, L., Hoover, V., … Nancy, R. (2017). INTERDISCIPLINARY PERIPARTUM CARE OF THE PATIENT WITH DIASTOLIC HEART FAILURE IN NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. ELSEVIER SCIENCE INC. -
IDENTIFYING THE OPTIMAL ECHOCARDIOGRAPHIC VARIABLES TO PREDICT OUTCOME THROUGH CORRELATION MAPPING IN PATIENTS WITH DILATED CARDIOMYOPATHY
Moneghetti, K., Kim, J., Giraldeau, G., Kobayashi, Y., Boralkar, K., Schnittger, I., … Haddad, F. (2017). IDENTIFYING THE OPTIMAL ECHOCARDIOGRAPHIC VARIABLES TO PREDICT OUTCOME THROUGH CORRELATION MAPPING IN PATIENTS WITH DILATED CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. ELSEVIER SCIENCE INC. -
ADDRESSING REFERENCE ECHOCARDIOGRAPHIC PARAMETERS IN ATHLETIC SCREENING: A COLLEGE FOOTBALL-BASED STUDY FOCUSING ON THE IMPLICATIONS OF RACE AND CORRECTION FOR BODY COMPOSITION
Moneghetti, K., Singh, T., Kooreman, Z., Christle, J., Froelicher, V., Wheeler, M., … Haddad, F. (2017). ADDRESSING REFERENCE ECHOCARDIOGRAPHIC PARAMETERS IN ATHLETIC SCREENING: A COLLEGE FOOTBALL-BASED STUDY FOCUSING ON THE IMPLICATIONS OF RACE AND CORRECTION FOR BODY COMPOSITION. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 69(11), 1453. -
INTEGRATING MYOCARDIAL STRAIN AND EXERCISE PERFORMANCE INTO PROGNOSTICATION OF HYPERTROPHIC CARDIOMYOPATHY
Moneghetti, K., Stolfo, D., Christle, J., Kobayashi, Y., Finocchiaro, G., Sinagra, G., … Wheeler, M. (2017). INTEGRATING MYOCARDIAL STRAIN AND EXERCISE PERFORMANCE INTO PROGNOSTICATION OF HYPERTROPHIC CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. ELSEVIER SCIENCE INC. -
SYSTOLIC DYSFUNCTION WITHOUT LV DILATATION IN A COHORT OF PATIENTS WITH LAMIN A/C CARDIOMYOPATHY
Parikh, V. N., Amsallem, M., Haddad, F., Ashley, E., & Wheeler, M. (2017). SYSTOLIC DYSFUNCTION WITHOUT LV DILATATION IN A COHORT OF PATIENTS WITH LAMIN A/C CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 69(11), 846. -
Bayesian Selection of Modifier Genes in Hypertrophic Cardiomyopathy Through Whole Genome Sequencing
Wheeler, M., Waggott, D., Grove, M., Dewey, F., Pan, C., Pavlovic, A., … Ashley, E. (2015). Bayesian Selection of Modifier Genes in Hypertrophic Cardiomyopathy Through Whole Genome Sequencing. CIRCULATION RESEARCH. LIPPINCOTT WILLIAMS & WILKINS. -
Assessing the Impact of False Positive and False Negative Variant Calls on Clinical Genome Interpretation
Zook, J. M., Goldfeder, R., Priest, J., Grove, M., Wheeler, M., Ashley, E., & Salit, M. (2014). Assessing the Impact of False Positive and False Negative Variant Calls on Clinical Genome Interpretation. JOURNAL OF MOLECULAR DIAGNOSTICS, 16(6), 711. -
Patients with Hypertrophic Cardiomyopathy are Less Physically Active than the General Population
Rolston, B., Reineck, E., Bragg-Gresham, J., Salberg, L., Saberi, S., Baty, L., … Day, S. M. (2012). Patients with Hypertrophic Cardiomyopathy are Less Physically Active than the General Population. CIRCULATION, 126(21). -
Cost-Effectiveness Analysis Demonstrates Superiority of Screening Young Athletes with 12-Lead Electrocardiogram versus History and Physical in Preventing Sudden Cardiac Death
Wheeler, M. T., Heidenreich, P. A., Froelicher, V. F., Hlatky, M. A., & Ashley, E. A. (2008). Cost-Effectiveness Analysis Demonstrates Superiority of Screening Young Athletes with 12-Lead Electrocardiogram versus History and Physical in Preventing Sudden Cardiac Death. CIRCULATION, 118(18), S1163. -
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Helle, E., Cordova-Palomera, A., Ojala, T., Saha, P., Potiny, P., Gustafsson, S., … Priest, J. R. (2018). Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genetic Epidemiology. -
A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay.
Seeger, T., Shrestha, R., Lam, C. K., Chen, C., McKeithan, W. L., Lau, E., … Wu, J. C. (2018). A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. Circulation. -
The Myheart Counts Cardiovascular Health Study: A Randomized Controlled Trial of Digital Health Coaching for Physical Activity Promotion
Shcherbina, A., Hershman, S., King, A. C., Hekler, E., Pavlovic, A., Waggott, D., … Harrington, R. A. (2018). The Myheart Counts Cardiovascular Health Study: A Randomized Controlled Trial of Digital Health Coaching for Physical Activity Promotion. CIRCULATION, 138(25), E767. -
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., … Ware, J. S. (2019). Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. Genome Medicine, 11(1), 5. -
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
Grove, M. E., White, S., Fisk, D. G., Rego, S., Dagan-Rosenfeld, O., Kohler, J. N., … Hanson-Kahn, A. K. (2019). Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. Journal of Genetic Counseling. -
DNASE1L3 RELATED AUTOIMMUNE SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE
Schymick, J., Bonner, D., Majcherska, M., McCormack, C., Fresard, L., Smith, K., … Bernstein, J. (2019). DNASE1L3 RELATED AUTOIMMUNE SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE. JOURNAL OF INVESTIGATIVE MEDICINE, 67(1), 80–81. -
IL6ST RELATED IMMUNODEFICIENCY DISORDER: A CASE REPORT AND REVIEW OF LITERATURE
Velez-Bartolomei, F., Zastrow, D., McCormack, C., Kohler, J., Ud, N., Fisher, P., … Bernstein, J. (2019). IL6ST RELATED IMMUNODEFICIENCY DISORDER: A CASE REPORT AND REVIEW OF LITERATURE. JOURNAL OF INVESTIGATIVE MEDICINE, 67(1), 208. -
Rapid Genome Sequencing in the Critically lll.
Buchan, J. G., White, S., Joshi, R., & Ashley, E. A. (2019). Rapid Genome Sequencing in the Critically lll. Clinical Chemistry. -
Serial echo-cardiopulmonary exercise test ramping for evaluation of patients with VAD
Christle, J. W., Moneghetti, K., Haddad, F., Myers, J., Ashley, E. A., Wheeler, M., & Banerjee, D. (2018). Serial echo-cardiopulmonary exercise test ramping for evaluation of patients with VAD. EUROPEAN HEART JOURNAL, 39, 386. -
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.
Hom, J., Marwaha, S., Postolova, A., Kittle, J., Vasquez, R., Davidson, J., … Wheeler, M. (2019). A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. Journal of General Internal Medicine. -
COMPARISON OF UNITED STATES AND EUROPEAN CRITERIA FOR HYPERTENSION IN A LARGE COHORT OF COMPETITIVE ATHLETES EXAMINED AS PART OF PRE-PARTICIPATION EVALUATION
Hedman, K., Moneghetti, K., Christle, J. W., Bagherzadeh, S. P., Haddad, F., Ashley, E. A., & Froelicher, V. (2019). COMPARISON OF UNITED STATES AND EUROPEAN CRITERIA FOR HYPERTENSION IN A LARGE COHORT OF COMPETITIVE ATHLETES EXAMINED AS PART OF PRE-PARTICIPATION EVALUATION. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 73(9), 446. -
RESTING BLOOD PRESSURE IN 2881 ATHLETES AGED 9-35 YEARS OF AGE AND THE RELATION TO SEX, AGE, BODY SIZE, AND AFRO-AMERICAN DESCENT
Bagherzadeh, S. P., Hedman, K., Christle, J. W., Moneghetti, K., Ashley, E. A., Haddad, F., & Froelicher, V. (2019). RESTING BLOOD PRESSURE IN 2881 ATHLETES AGED 9-35 YEARS OF AGE AND THE RELATION TO SEX, AGE, BODY SIZE, AND AFRO-AMERICAN DESCENT. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 73(9), 447. -
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Parikh, V. N., Caleshu, C., Reuter, C., Lazzeroni, L. C., Ingles, J., Garcia, J., … Ashley, E. (2019). Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. Circulation. Heart Failure, 12(3), e005371. -
NOVEL ALPHA-ACTININ 2 MUTATIONS ARE ASSOCIATED WITH CARDIOMYOPATHY AND HYPERTROPHY IN HUMAN CARDIAC TISSUE AND IPSC-DERIVED CARDIOMYOCYTES
Lindholm, M., Zhu, H., Huang, Y., Ashley, E. A., & Wheeler, M. (2019). NOVEL ALPHA-ACTININ 2 MUTATIONS ARE ASSOCIATED WITH CARDIOMYOPATHY AND HYPERTROPHY IN HUMAN CARDIAC TISSUE AND IPSC-DERIVED CARDIOMYOCYTES. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 73(9), 1027. -
INDEPENDENT PROGNOSTIC VALUES OF CLINICAL RISK SCORES, RIGHT VENTRICULAR SYSTOLIC PRESSURE, AND N-TERMINAL PRO-B-TYPE PEPTIDE IN HEART FAILURE WITH PRESERVED EJECTION FRACTION: INSIGHTS FROM SUPERVISED AND UNSUPERVISED MODELS
Tremblay-Gravel, M., Kobayashi, Y., Boralkar, K., Li, X., Bouajila, S., Nishi, T., … Haddad, F. (2019). INDEPENDENT PROGNOSTIC VALUES OF CLINICAL RISK SCORES, RIGHT VENTRICULAR SYSTOLIC PRESSURE, AND N-TERMINAL PRO-B-TYPE PEPTIDE IN HEART FAILURE WITH PRESERVED EJECTION FRACTION: INSIGHTS FROM SUPERVISED AND UNSUPERVISED MODELS. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 73(9), 718. -
Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)".
Ho, C. Y., Day, S. M., Ashley, E. A., Michels, M., Pereira, A. C., Jacoby, D., … Olivotto, I. (2019). Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)". Circulation, 139(12), 1559–60. -
Enhancing the Duke Treadmill Score
Rafie, A. H. S., Sungar, G. W., Dewey, F. E., Ashley, E. A., Hadley, D., Myers, J., & Froelicher, V. F. (2008). Enhancing the Duke Treadmill Score. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 51(10), A175–A176. -
Are T wave Inversions in the Anterior Precordial Leads Benign in African-Americans?
Findley, C. M., Stein, R., Perez, M., Ashley, E., & Froelicher, V. (2012). Are T wave Inversions in the Anterior Precordial Leads Benign in African-Americans? CIRCULATION, 126(21). -
Race Differences in Ventricular Remodeling Among College Football Players: Implications for a Cardiovascular Screening Program
Peter, S., Haddad, F., Hulme, O., Gomari, A., Myers, J., Froelicher, V., & Ashley, E. (2012). Race Differences in Ventricular Remodeling Among College Football Players: Implications for a Cardiovascular Screening Program. CIRCULATION, 126(21). -
Better decisions through science: Exercise testing scores
Froelicher, Shetler, K., & Ashley, E. (2003). Better decisions through science: Exercise testing scores. CURRENT PROBLEMS IN CARDIOLOGY, 28(11), 589–620. -
Age and Double Product Reserve-Adjusted Modification of the Duke Treadmill Score Nomogram
Rafie, A. H. S., Dewey, F. E., Sungar, G. W., Ashley, E. A., Hadley, D., Myers, J., & Froelicher, V. F. (2008). Age and Double Product Reserve-Adjusted Modification of the Duke Treadmill Score Nomogram. CIRCULATION, 118(18), S681. -
Whole Exome Sequencing Identifies Carboxylesterase 1 As Aa Novel Candidate Gene In Patients With Methamphetamine Induced Pulmonary Hypertension
Zamanian, R. T., Khurshudyan, A., Dewey, F., Orcholski, M., Ashley, E., & Perez, V. de J. (2013). Whole Exome Sequencing Identifies Carboxylesterase 1 As Aa Novel Candidate Gene In Patients With Methamphetamine Induced Pulmonary Hypertension. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 187. -
Carboxylesterase 1, A Novel Candidate Gene In Pulmonary Arterial Hypertension, Protects The Pulmonary Endothelium Against Methamphetamine-Mediated Injury
Orcholski, M., Khurshudyan, A., Morriseau, C., Dewey, F., Ashley, E., Hammock, B., … Perez, V. D. J. (2014). Carboxylesterase 1, A Novel Candidate Gene In Pulmonary Arterial Hypertension, Protects The Pulmonary Endothelium Against Methamphetamine-Mediated Injury. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 189. -
Loss Of Carboxylesterase 1 Activity Is Associated With Reduced Bone Morphogenetic Protein Receptor 2 Activity And Membrane Localization In Pulmonary Endothelial Cells
Aurora, R., Orcholski, M., Khurshudyan, A., Dewey, F., Ashley, E., Morriseau, C., … Perez, V. D. J. (2014). Loss Of Carboxylesterase 1 Activity Is Associated With Reduced Bone Morphogenetic Protein Receptor 2 Activity And Membrane Localization In Pulmonary Endothelial Cells. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 189. -
Whole Exome Sequencing Identifies Novel Candidate Genes In A Cohort Of Patients With Idiopathic Pulmonary Arterial Hypertension
Perez, V. de J., Lyuksyutova, M., Dewey, F., Del Rosario, P. A., Ashley, E., & Zamanian, R. T. (2013). Whole Exome Sequencing Identifies Novel Candidate Genes In A Cohort Of Patients With Idiopathic Pulmonary Arterial Hypertension. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 187. -
Independent Determinants of Septal Curvature in Patients with Pulmonary Arterial Hypertension
Haddad, F., Denault, A. Y., Shkiri, M., Guihaire, J., Mercier, O., Gomari, F., … Schnittger, I. (2012). Independent Determinants of Septal Curvature in Patients with Pulmonary Arterial Hypertension. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 31(4), S80. -
Apelin potently inhibits angiotensin and disease induced superoxide generation and associated vascular remodeling in vein grafts
Ali, Z. A., Kojima, Y., Sheikh, A. Y., Ashley, E. A., & Quertermous, T. (2007). Apelin potently inhibits angiotensin and disease induced superoxide generation and associated vascular remodeling in vein grafts. CIRCULATION, 116(16), 446. -
Long-term apelin infusion rescues chronic cardiomyopathy and potentiates the effects of ACE-inhibition
Sista, R. R., Sheikh, A. Y., Robbins, R. C., Quertermous, T., & Ashley, E. A. (2006). Long-term apelin infusion rescues chronic cardiomyopathy and potentiates the effects of ACE-inhibition. CIRCULATION, 114(18), 486. -
Long-term apelin infusion rescues chronic cardiomyopathy and potentiates the effects of ACE-inhibition
Sista, R. R., Sheikh, A. Y., Robbins, R. C., Quertermous, T., & Ashley, E. A. (2006). Long-term apelin infusion rescues chronic cardiomyopathy and potentiates the effects of ACE-inhibition. JOURNAL OF CARDIAC FAILURE, 12(6), S3. -
Genomic analysis of human atherectomy specimens predicts superior performance of sirolimus eluting stents
Ashley, E., Ferrara, R., King, J. Y., He, X. M., Gerckens, U., Vailaya, A., … Quertermous, T. (2006). Genomic analysis of human atherectomy specimens predicts superior performance of sirolimus eluting stents. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 47(4), 9B. -
Apelin deficient mice exhibit decreased cardiac contractility, peak oxygen consumption, and exercise capacity: Evidence that apelin is an important endogenous inotrope
Charo, D. N., Ashley, E. A., Sheikh, A. Y., Chen, M., Finsterbach, T., Robbins, R. C., … Quertermous, T. (2005). Apelin deficient mice exhibit decreased cardiac contractility, peak oxygen consumption, and exercise capacity: Evidence that apelin is an important endogenous inotrope. CIRCULATION, 112(17), U323. -
Mind the Gap: Current Challenges and Future State of Heart Failure Care
McDonald, M. A., Ashley, E. A., Fedak, P. W. M., Hawkins, N., Januzzi, J. L., McMurray, J. J. V., … Virani, S. (2017). Mind the Gap: Current Challenges and Future State of Heart Failure Care. CANADIAN JOURNAL OF CARDIOLOGY, 33(11), 1434–49. -
Deep learning automates the quantitative analysis of individual cells in live-cell imaging experiments.
Van Valen, D., Kudo, T., Lane, K., Macklin, D., Quach, N., DeFelice, M., … Covert, M. W. (2016). Deep learning automates the quantitative analysis of individual cells in live-cell imaging experiments. MOLECULAR BIOLOGY OF THE CELL, 27. -
Next-Generation Sequencing in Cardiovascular Disease Present Clinical Applications and the Horizon of Precision Medicine
Parikh, V. N., & Ashley, E. A. (2017). Next-Generation Sequencing in Cardiovascular Disease Present Clinical Applications and the Horizon of Precision Medicine. CIRCULATION, 135(5), 406–9. -
Denoising of Quality Scores for Boosted Inference and Reduced Storage
Ochoa, I., Hernaez, M., Goldfeder, R., Weissman, T., & Ashley, E. (2016). Denoising of Quality Scores for Boosted Inference and Reduced Storage. 2016 DATA COMPRESSION CONFERENCE (DCC). IEEE. -
Whole exome sequencing of a Finnish HLHS cohort reveals new variants in known LVOTO related genes and identifies new candidate genes
Helle, E., Ojala, T., Ashley, E., & Priest, J. R. (2016). Whole exome sequencing of a Finnish HLHS cohort reveals new variants in known LVOTO related genes and identifies new candidate genes. EUROPEAN HEART JOURNAL, 37, 1036. -
Somatic Mosaicism of Novel SCN5A Mutation in Purkinje System (PS) may Underlie 2: 1 Block in an Infant with Long QT Syndrome (LQTS)
Yu, J. K., Boyle, P. M., O'Hara, T., Priest, J. R., Ashley, E., & Trayanova, N. A. (2016). Somatic Mosaicism of Novel SCN5A Mutation in Purkinje System (PS) may Underlie 2: 1 Block in an Infant with Long QT Syndrome (LQTS). BIOPHYSICAL JOURNAL, 110(3), 527A. -
The Undiagnosed Diseases Program Reply
Gahl, W. A., Wise, A. L., & Ashley, E. A. (2016). The Undiagnosed Diseases Program Reply. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 315(17), 1904. -
Hemodynamic effects of apelin in mice: Initial characterization of a potential inotropic agent
Mahajan, R., Agrawal, R., Patterson, A. J., Ashley, E., & Thomas, Q. (2003). Hemodynamic effects of apelin in mice: Initial characterization of a potential inotropic agent. CRITICAL CARE MEDICINE, 31(12), A32. -
Promise of Precision Medicine Reply
Ashley, E. A. (2015). Promise of Precision Medicine Reply. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 314(16), 1752–53. -
Arrhythmogenic Right Ventricular Cardiomyopathy Toward a Modern Clinical and Genomic Understanding
Dunn, K. E., & Ashley, E. A. (2015). Arrhythmogenic Right Ventricular Cardiomyopathy Toward a Modern Clinical and Genomic Understanding. CIRCULATION-CARDIOVASCULAR GENETICS, 8(3), 421–24. -
Image-Based Functional Assay to Screen Therapies for Inherited Heart Disease.
Simmons, C., Zaleta-Rivera, K. L., Ribeiro, A., Ashley, E., & Pruitt, B. L. (2012). Image-Based Functional Assay to Screen Therapies for Inherited Heart Disease. MOLECULAR BIOLOGY OF THE CELL, 23. -
Additive prognostic value of a cardiopulmonary exercise test score in patients with heart failure and intermediate risk
Ritt, L. E., Myers, J., Stein, R., Arena, R., Guazzi, M., Chase, P., … Forman, D. E. (2015). Additive prognostic value of a cardiopulmonary exercise test score in patients with heart failure and intermediate risk. INTERNATIONAL JOURNAL OF CARDIOLOGY, 178, 262–64. -
Genomics in clinical practice
Priest, J. R., & Ashley, E. A. (2014). Genomics in clinical practice. HEART, 100(20), 1569–70. -
Contractility of Neonatal Cardiomyocytes is Altered with Different Densities of Laminin Covalently Attached to Microposts
Ribeiro, A. J. S., Zaleta-Rivera, K., Ashley, E. A., & Pruitt, B. L. (2014). Contractility of Neonatal Cardiomyocytes is Altered with Different Densities of Laminin Covalently Attached to Microposts. BIOPHYSICAL JOURNAL, 106(2), 211A. -
Analysis of Cardiomyopathy Using Whole Genome Sequencing
Golbus, J. R., Puckelwartz, M. J., Pesce, L. L., Wolfgeher, D., Dellefave-Castillo, L., Cappola, T. P., … McNally, E. M. (2012). Analysis of Cardiomyopathy Using Whole Genome Sequencing. CIRCULATION. LIPPINCOTT WILLIAMS & WILKINS. -
Impact of Cardiorespiratory Fitness on the Obesity Paradox in Patients with Heart Failure
Lavie, C. J., Cahalin, L. P., Chase, P., Myers, J., Bensimhon, D., Peberdy, M. A., … Arena, R. (2012). Impact of Cardiorespiratory Fitness on the Obesity Paradox in Patients with Heart Failure. CIRCULATION, 126(21). -
Exome Sequencing of Atrioventricular Septal Defects Reveals Rare and de novo Variants in Genes Related to Congenital Heart Disease and Cardiac Development
Priest, J. R., Girirajan, S., Dewey, F., Eichler, E. E., Gelb, B. D., Quertermous, T., … Portman, M. A. (2013). Exome Sequencing of Atrioventricular Septal Defects Reveals Rare and de novo Variants in Genes Related to Congenital Heart Disease and Cardiac Development. CIRCULATION RESEARCH, 113(12), E163. -
ACTIVATION OF VEGFR-2 IN ADVENTITIAL STEM CELLS TRIGGERS VASCULAR REMODELLING
Chang, C., Lin, C., Lin, C., Lehrer, J., Krampitz, G., Ikeno, F., … Rabinovitch, M. (2013). ACTIVATION OF VEGFR-2 IN ADVENTITIAL STEM CELLS TRIGGERS VASCULAR REMODELLING. CARDIOLOGY, 126, 15. -
Bone Morphogenetic Protein Promotes Motility And Represses Proliferation Of Vascular Smooth Muscle Cells By Tandem Recruitment Of Canonical And Non-canonical Wnt Signaling Pathways
Perez, von de J., Ali, Z., Alastalo, T., Sawada, H., Axelrod, J., Ashley, E., & Rabinovitch, M. (2010). Bone Morphogenetic Protein Promotes Motility And Represses Proliferation Of Vascular Smooth Muscle Cells By Tandem Recruitment Of Canonical And Non-canonical Wnt Signaling Pathways. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE. AMER THORACIC SOC. -
Prevalence and Clinical Correlates of Right Ventricular Dysfunction in Patients with Hypertrophic Cardiomyopathy
Finocchiaro, G., Pavlovic, A., Sudini, N. L., Sinagra, G., Haddad, F., & Ashley, E. (2013). Prevalence and Clinical Correlates of Right Ventricular Dysfunction in Patients with Hypertrophic Cardiomyopathy. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 32(4), S21–S22. -
A NEURAL NETWORK APPROACH TO PREDICTING OUTCOMES IN HEART FAILURE USING CARDIOPULMONARY EXERCISE TESTING
Arena, R., Myers, J. N., de Souza, C. R., Silva, A. B., Guazzi, M., Chase, P., … Forman, D. (2013). A NEURAL NETWORK APPROACH TO PREDICTING OUTCOMES IN HEART FAILURE USING CARDIOPULMONARY EXERCISE TESTING. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(10), E1415. -
PREVALENCE AND CLINICAL CORRELATES OF RIGHT VENTRICULAR DYSFUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY
Finocchiaro, G., Pavlovic, A., Shmargad, Y., Sinagra, G., Haddad, F., & Ashley, E. (2013). PREVALENCE AND CLINICAL CORRELATES OF RIGHT VENTRICULAR DYSFUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 61(10), E1273. -
Personalized Medicine and Cardiovascular Disease: From Genome to Bedside
Pan, S., Dewey, F. E., Perez, M. V., Knowles, J. W., Chen, R., Butte, A. J., & Ashley, E. A. (2011). Personalized Medicine and Cardiovascular Disease: From Genome to Bedside. CURRENT CARDIOVASCULAR RISK REPORTS, 5(6), 542–51. -
The relationship between minute ventilation and oxygen consumption in heart failure: Comparing peak VE/VO2 and the oxygen uptake efficiency slope
Arena, R., Guazzi, M., Myers, J., Chase, P., Bensimhon, D., Cahalin, L. P., … Forman, D. E. (2012). The relationship between minute ventilation and oxygen consumption in heart failure: Comparing peak VE/VO2 and the oxygen uptake efficiency slope. INTERNATIONAL JOURNAL OF CARDIOLOGY, 154(3), 384–85. -
Statistical methods for AV/VV optimization
Turcott, R. G., & Ashley, E. A. (2008). Statistical methods for AV/VV optimization. JOURNAL OF CARDIAC FAILURE, 14(6), S65. -
Intracellular Calcium Handling in the Donor Heart: Comparison between DCD and Brainstem Dead (BSD) Donor Hearts
Taghavi, F. J., Ali, A. A., Woods, C., Large, S. R., & Ashley, E. A. (2011). Intracellular Calcium Handling in the Donor Heart: Comparison between DCD and Brainstem Dead (BSD) Donor Hearts. JOURNAL OF HEART AND LUNG TRANSPLANTATION, 30(4), S199. -
Insights into Human beta-Cardiac Myosin Function from Single Molecule and Single Cell Studies (vol 2, pg 426, 2009)
Sivaramakrishnan, S., Ashley, E., Leinwand, L., & Spudich, J. A. (2011). Insights into Human beta-Cardiac Myosin Function from Single Molecule and Single Cell Studies (vol 2, pg 426, 2009). JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH, 4(1), 114. -
Arterial Stent Deployment Results in a Time Dependent Increase in Neointima Formation and Delayed Endothelial Cell Repopulation Compared With Balloon Angioplasty
Douglas, G., Van Kampen, E., Ali, Z., Qu, X., Ashley, E., & Channon, K. M. (2009). Arterial Stent Deployment Results in a Time Dependent Increase in Neointima Formation and Delayed Endothelial Cell Repopulation Compared With Balloon Angioplasty. CIRCULATION, 120(18), S1171. -
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Kumar, A., Zastrow, D. B., Kravets, E. J., Beleford, D., Ruzhnikov, M. R., Grove, M. E., … Bernstein, J. A. (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American Journal of Medical Genetics. Part A. -
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow, D. B., Kohler, J. N., Bonner, D., Reuter, C. M., Fernandez, L., Grove, M. E., … Wheeler, M. T. (2019). A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Journal of Genetic Counseling, 28(2), 213–28. -
Comparison of QT Interval Measurement Methods and Correction Formulas in Atrial Fibrillation.
Tooley, J., Ouyang, D., Hadley, D., Turakhia, M., Wang, P., Ashley, E., … Perez, M. (2019). Comparison of QT Interval Measurement Methods and Correction Formulas in Atrial Fibrillation. The American Journal of Cardiology. -
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy
Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., … Holst, C. R. (2019). Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. PLOS ONE, 14(3). -
PHACOMATOSIS PIGMENTOVASCULARIS AND EXTRACUTANEOUS MANIFESTATIONS: CASE SERIES, LITERATURE REVIEW AND CONSIDERATIONS FOR MANAGEMENT
Kumar, A., Zastrow, D. B., Beleford, D., Ruzhnikov, M. R. Z., Grove, M. E., Dries, A. M., … Bernstein, J. A. (2019). PHACOMATOSIS PIGMENTOVASCULARIS AND EXTRACUTANEOUS MANIFESTATIONS: CASE SERIES, LITERATURE REVIEW AND CONSIDERATIONS FOR MANAGEMENT. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(4), 718–19. -
Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study.
Hershman, S. G., Bot, B. M., Shcherbina, A., Doerr, M., Moayedi, Y., Pavlovic, A., … Ashley, E. A. (2019). Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study. Scientific Data, 6(1), 24. -
What's in a Name? Factors That Influence the Usage of Generic Versus Trade Names for Cardiac Medications Among Healthcare Providers.
Ouyang, D., Tisdale, R., Cheng, P., Chi, J., Chen, J. H., & Ashley, E. (2018). What's in a Name? Factors That Influence the Usage of Generic Versus Trade Names for Cardiac Medications Among Healthcare Providers. Circulation. Cardiovascular Quality and Outcomes, 11(8), e004704. -
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.
Kahn-Kirby, A. H., Amagata, A., Maeder, C. I., Mei, J. J., Sideris, S., Kosaka, Y., … Holst, C. R. (2019). Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. PloS One, 14(3), e0214250. -
Report from the Annual Conference of the British Society of Echocardiography, November 2016, Queen Elizabeth II Conference Centre, London.
Steeds, R. P., Cowie, M. R., Rana, B. S., Chambers, J. B., Ray, S., Srinivasan, J., … Russhard, P. (2017). Report from the Annual Conference of the British Society of Echocardiography, November 2016, Queen Elizabeth II Conference Centre, London. Echo Research and Practice, 4(3), M1. -
Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy.
Finocchiaro, G., Magavern, E., Sinagra, G., Ashley, E., Papadakis, M., Tome-Esteban, M., … Olivotto, I. (2017). Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy. Journal of the American Heart Association, 6(12). -
Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction.
Rhee, J.-W. W., Grove, M. E., & Ashley, E. A. (2017). Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. Circulation. Cardiovascular Genetics, 10(4). -
Redox regulation of vascular remodeling.
Karimi Galougahi, K., Ashley, E. A., & Ali, Z. A. (2016). Redox regulation of vascular remodeling. Cellular and Molecular Life Sciences : CMLS, 73(2), 349–63. -
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing
Zastrow, D. B., Kohler, J. N., Bonner, D., Reuter, C. M., Fernandez, L., Grove, M. E., … Zheng, A. (2019). A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. JOURNAL OF GENETIC COUNSELING, 28(2), 213–28. -
Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study
Hershman, S. G., Bot, B. M., Shcherbina, A., Doerr, M., Moayedi, Y., Pavlovic, A., … Ashley, E. A. (2019). Physical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study. SCIENTIFIC DATA, 6. -
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., … Ashley, E. A. (2018). Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. NEW ENGLAND JOURNAL OF MEDICINE, 379(22), 2131–39. -
Athletic Remodeling in Female College Athletes: The "Morganroth Hypothesis" Revisited.
Kooreman, Z., Giraldeau, G., Finocchiaro, G., Kobayashi, Y., Wheeler, M., Perez, M., … Haddad, F. (2019). Athletic Remodeling in Female College Athletes: The "Morganroth Hypothesis" Revisited. Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine, 29(3), 224–31. -
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype
Zastrow, D. B., Zornio, P. A., Dries, A., Kohler, J., Fernandez, L., Waggott, D., … Wheeler, M. T. (2017). Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. COLD SPRING HARBOR MOLECULAR CASE STUDIES, 3(1). -
Telomere shortening is a hallmark of genetic cardiomyopathies
Chang, A. C. Y., Chang, A. C. H., Kirillova, A., Sasagawa, K., Su, W., Weber, G., … Blau, H. M. (2018). Telomere shortening is a hallmark of genetic cardiomyopathies. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 115(37), 9276–81. -
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students
Grove, M. E., White, S., Fisk, D. G., Rego, S., Dagan-Rosenfeld, O., Kohler, J. N., … Hanson-Kahn, A. K. (2019). Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. JOURNAL OF GENETIC COUNSELING, 28(2), 466–76. -
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
Helle, E., Cordova-Palomera, A., Ojala, T., Saha, P., Potiny, P., Gustafsson, S., … Priest, J. R. (2019). Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. GENETIC EPIDEMIOLOGY, 43(2), 215–26. -
Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes
Chen, A. S., Bent, R. E., Wheeler, M., Knowles, J. W., Haddad, F., Froelicher, V., … Perez, M. V. (2018). Large Q and S waves in lead III on the electrocardiogram distinguish patients with hypertrophic cardiomyopathy from athletes. HEART, 104(22), 1871–77. -
Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3.
Dainis, A., Tseng, E., Clark, T. A., Hon, T., Wheeler, M., & Ashley, E. (2019). Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3. Circulation. Genomic and Precision Medicine, 12(5), e002464. -
Blood pressure in athletic preparticipation evaluation and the implication for cardiac remodelling.
Hedman, K., Moneghetti, K. J., Christle, J. W., Bagherzadeh, S. P., Amsallem, M., Ashley, E., … Haddad, F. (2019). Blood pressure in athletic preparticipation evaluation and the implication for cardiac remodelling. Heart (British Cardiac Society). -
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard, L., Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., … Montgomery, S. B. (2019). Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nature Medicine. -
A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay
Seeger, T., Shrestha, R., Lam, C. K., Chen, C., McKeithan, W. L., Lau, E., … Wu, J. C. (2019). A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. CIRCULATION, 139(6), 799–811. -
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review
Kumar, A., Zastrow, D. B., Kravets, E. J., Beleford, D., Ruzhnikov, M. R. Z., Grove, M. E., … Zheng, A. (2019). Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179(6), 966–77. -
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy
Parikh, V. N., Caleshu, C., Reuter, C., Lazzeroni, L. C., Ingles, J., Garcia, J., … Ashley, E. (2019). Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. CIRCULATION-HEART FAILURE, 12(3). -
Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging.
Miller, R. J., Heidary, S., Pavlovic, A., Schlachter, A., Dash, R., Fleischmann, D., … Yang, P. C. (2019). Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. PloS One, 14(6), e0217612. -
Rapid Genome Sequencing in the Critically Ill
Buchan, J. G., White, S., Joshi, R., & Ashley, E. A. (2019). Rapid Genome Sequencing in the Critically Ill. CLINICAL CHEMISTRY, 65(6), 723–26. -
A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis
Hom, J., Marwaha, S., Postolova, A., Kittle, J., Vasquez, R., Davidson, J., … Wheeler, M. (2019). A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. JOURNAL OF GENERAL INTERNAL MEDICINE, 34(6), 1058–62. -
Comparison of QT Interval Measurement Methods and Correction Formulas in Atrial Fibrillation
Tooley, J., Ouyang, D., Hadley, D., Turakhia, M., Wang, P., Ashley, E., … Perez, M. (2019). Comparison of QT Interval Measurement Methods and Correction Formulas in Atrial Fibrillation. AMERICAN JOURNAL OF CARDIOLOGY, 123(11), 1822–27. -
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Cordero, P., Parikh, V. N., Chin, E. T., Erbilgin, A., Gloudemans, M. J., Shang, C., … Ashley, E. A. (2019). Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure. Nature Communications, 10(1), 2760. -
Weakly supervised classification of rare aortic valve malformations using unlabeled cardiac MRI sequences
Fries, J. A., Varma, P., Chen, V. S., Xiao, K., Tejeda, H., Saha, P., … Priest, J. R. (2019). Weakly supervised classification of rare aortic valve malformations using unlabeled cardiac MRI sequences. Nature Communications, 10. -
Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Due to a Human Myosin Regulatory Light Chain Mutation.
Zaleta-Rivera, K., Dainis, A., Ribeiro, A. J., Sanchez Cordero, P., Rubio, G., Shang, C., … Ashley, E. A. (2019). Allele-Specific Silencing Ameliorates Restrictive Cardiomyopathy Due to a Human Myosin Regulatory Light Chain Mutation. Circulation. -
Approaching Higher Dimension Imaging Data Using Cluster-Based Hierarchical Modeling in Patients with Heart Failure Preserved Ejection Fraction.
Kobayashi, Y., Tremblay-Gravel, M., Boralkar, K. A., Li, X., Nishi, T., Amsallem, M., … Haddad, F. (2019). Approaching Higher Dimension Imaging Data Using Cluster-Based Hierarchical Modeling in Patients with Heart Failure Preserved Ejection Fraction. Scientific Reports, 9(1), 10431. -
Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition
Parikh, V. N., Liu, J., Shang, C., Woods, C., Chang, A. C., Zhao, M., … Ashley, E. A. (2018). Apelin and APJ orchestrate complex tissue-specific control of cardiomyocyte hypertrophy and contractility in the hypertrophy-heart failure transition. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 315(2), H348–H356. -
Personalized prediction of adverse heart and kidney events using baseline and longitudinal data from SPRINT and ACCORD.
Dinstag, G., Amar, D., Ingelsson, E., Ashley, E., & Shamir, R. (2019). Personalized prediction of adverse heart and kidney events using baseline and longitudinal data from SPRINT and ACCORD. PloS One, 14(8), e0219728. -
Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng, L. N., Kohler, J. N., Levonian, P., Bernstein, J. A., Ford, J. M., Ahuja, N., … Wheeler, M. (2019). Genomics in medicine: a novel elective rotation for internal medicine residents. Postgraduate Medical Journal. -
Athletic Remodeling in Female College Athletes: The "Morganroth Hypothesis" Revisited
Kooreman, Z., Giraldeau, G., Finocchiaro, G., Kobayashi, Y., Wheeler, M., Perez, M., … Haddad, F. (2019). Athletic Remodeling in Female College Athletes: The "Morganroth Hypothesis" Revisited. CLINICAL JOURNAL OF SPORT MEDICINE, 29(3), 224–31. -
Cardiopulmonary Exercise Testing, Impedance Cardiography and Reclassification of Risk in Patients Referred for Heart Failure Evaluation.
Myers, J., Christle, J. W., Tun, A., Yilmaz, B., Moneghetti, K. J., Yuen, E., … Ashley, E. (2019). Cardiopulmonary Exercise Testing, Impedance Cardiography and Reclassification of Risk in Patients Referred for Heart Failure Evaluation. Journal of Cardiac Failure. -
Acetaminophen or Tylenol? A Retrospective Analysis of Medication Digital Communication Practices
Ouyang, D., Tisdale, R., Ashley, E., Chi, J., & Chen, J. H. (2018). Acetaminophen or Tylenol? A Retrospective Analysis of Medication Digital Communication Practices. JOURNAL OF GENERAL INTERNAL MEDICINE, 33(8), 1218–20. -
A novel noninvasive method for remote heart failure monitoring: the EuleriAn video Magnification apPLications In heart Failure studY (AMPLIFY).
Abnousi, F., Kang, G., Giacomini, J., Yeung, A., Zarafshar, S., Vesom, N., … Yong, C. (2019). A novel noninvasive method for remote heart failure monitoring: the EuleriAn video Magnification apPLications In heart Failure studY (AMPLIFY). NPJ Digital Medicine, 2, 80. -
Time based versus strain based myocardial performance indices in hypertrophic cardiomyopathy, the merging role of left atrial strain
Kobayashi, Y., Moneghetti, K. J., Bouajila, S., Stolfo, D., Finocchiaro, G., Kuznetsova, T., … Haddad, F. (2019). Time based versus strain based myocardial performance indices in hypertrophic cardiomyopathy, the merging role of left atrial strain. EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING, 20(3), 334–42. -
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.
Reuter, C. M., Kohler, J. N., Bonner, D., Zastrow, D., Fernandez, L., Dries, A., … Wheeler, M. T. (2019). Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. Journal of Genetic Counseling. -
Pathological overlap of Arrhythmogenic Right Ventricular Cardiomyopathy and Cardiac Sarcoidosis.
Kerkar, A., Hazard, F., Caleshu, C. A., Shah, R. L., Reuter, C., Ashley, E. A., & Parikh, V. N. (2019). Pathological overlap of Arrhythmogenic Right Ventricular Cardiomyopathy and Cardiac Sarcoidosis. Circulation. Genomic and Precision Medicine. -
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation.
Goodyer, W. R., Dunn, K., Caleshu, C., Jackson, M., Wylie, J., Moscarello, T., … Perez, M. (2019). Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation. Circulation. Genomic and Precision Medicine. -
Multiomics Approach to Diagnosing Undiagnosed Patients
Wheeler, M. T., Kohler, J. N., Bonner, D. E., Zastrow, D. B., Reuter, C., Majcherska, M., … Bernstein, J. A. (2019). Multiomics Approach to Diagnosing Undiagnosed Patients. EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1163–64. -
Structural variants in Alpha-actinin 2 are associated with cardiomyopathy and hypertrophy in human cardiac tissue and iPSC-derived cardiomyocytes
Lindholm, M. E., Zhu, H., Huang, Y., Ashley, E. A., & Wheeler, M. (2019). Structural variants in Alpha-actinin 2 are associated with cardiomyopathy and hypertrophy in human cardiac tissue and iPSC-derived cardiomyocytes. EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1310. -
Limitations of Electrocardiography for Detecting Left Ventricular Hypertrophy or Concentric Remodeling in Athletes.
Hedman, K., Moneghetti, K. J., Hsu, D., Christle, J. W., Patti, A., Ashley, E., … Froelicher, V. (2019). Limitations of Electrocardiography for Detecting Left Ventricular Hypertrophy or Concentric Remodeling in Athletes. The American Journal of Medicine. -
Echocardiographic Assessment of Left Ventricular Remodeling in American Style Footballers.
Moneghetti, K. J., Singh, T., Hedman, K., Christle, J. W., Kooreman, Z., Kobayashi, Y., … Haddad, F. (2019). Echocardiographic Assessment of Left Ventricular Remodeling in American Style Footballers. International Journal of Sports Medicine. -
Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy.
Eberly, L. A., Day, S. M., Ashley, E. A., Jacoby, D. L., Jefferies, J. L., Colan, S. D., … Lakdawala, N. K. (2019). Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy. JAMA Cardiology. -
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Toepfer, C. N., Garfinkel, A. C., Venturini, G., Wakimoto, H., Repetti, G., Alamo, L., … Seidman, C. E. (2020). Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy. Circulation. -
Deep learning interpretation of echocardiograms.
Ghorbani, A., Ouyang, D., Abid, A., He, B., Chen, J. H., Harrington, R. A., … Zou, J. Y. (2020). Deep learning interpretation of echocardiograms. NPJ Digital Medicine, 3, 10. -
TANGO2 DEFICIENCY: A CASE SERIES HIGHLIGHTING INTRAFAMILIAL VARIABILITY AND REVIEW OF THE LITERATURE
Schymick, J., Bonner, D., Leahy, P., Cowan, T., Ruzhnikov, M., Kohler, J., … Lee, C. (2020). TANGO2 DEFICIENCY: A CASE SERIES HIGHLIGHTING INTRAFAMILIAL VARIABILITY AND REVIEW OF THE LITERATURE. JOURNAL OF INVESTIGATIVE MEDICINE. BMJ PUBLISHING GROUP. -
Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy
Fumagalli, C., Maurizi, N., Day, S. M., Ashley, E. A., Michels, M., Colan, S. D., … Green, E. (2020). Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy. JAMA CARDIOLOGY, 5(1), 65–72. -
Classifying Drugs by their Arrhythmogenic Risk Using Machine Learning.
Sahli-Costabal, F., Seo, K., Ashley, E., & Kuhl, E. (2020). Classifying Drugs by their Arrhythmogenic Risk Using Machine Learning. Biophysical Journal. -
Genomic Context Predicts Dilated but Not Hypertrophic Cardiomyopathy
Puckelwartz, M. J., Pesce, L. L., Dellefave-Castillo, L. M., Wheeler, M. T., Pottinger, T. D., Robinson, A. C., … McNally, E. M. (2019). Genomic Context Predicts Dilated but Not Hypertrophic Cardiomyopathy. CIRCULATION RESEARCH. LIPPINCOTT WILLIAMS & WILKINS. -
Temporal trend in age at diagnosis of hypertrophic cardiomyopathy: an analysis of the share registry
Canepa, M., Fumagalli, C., Tini, G., Mazzarotto, F., Vincent-Tompkins, J., Day, S., … Olivotto, I. (2019). Temporal trend in age at diagnosis of hypertrophic cardiomyopathy: an analysis of the share registry. EUROPEAN HEART JOURNAL SUPPLEMENTS, 21(J), J181–J182. -
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Mao, D., Reuter, C. M., Ruzhnikov, M. R., Beck, A. E., Farrow, E. G., Emrick, L. T., … Chao, H.-T. T. (2020). De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. -
Impact of the distance from the chest wall to the heart on surface ECG voltage in athletes.
Hedman, K., Patti, A., Moneghetti, K. J., Hsu, D., Christle, J. W., Ashley, E., … Froelicher, V. (2020). Impact of the distance from the chest wall to the heart on surface ECG voltage in athletes. BMJ Open Sport & Exercise Medicine, 6(1), e000696. -
CLINICAL, CELLULAR AND MOLECULAR FEATURES OF THE IL6ST - RELATED IMMUNODEFICIENCY SYNDROME
Zastrow, D. B., Kohler, J., Bonner, D., Reuter, C., Fernandez, L., Chen, H., … Bernstein, J. A. (2020). CLINICAL, CELLULAR AND MOLECULAR FEATURES OF THE IL6ST - RELATED IMMUNODEFICIENCY SYNDROME. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 182(4), 937. -
Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy Results From the International Sarcomeric Human Cardiomyopathy Registry
Lee, S.-P., Ashley, E. A., Homburger, J., Caleshu, C., Green, E. M., Jacoby, D., … Perez, M. V. (2018). Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy Results From the International Sarcomeric Human Cardiomyopathy Registry. CIRCULATION-HEART FAILURE, 11(9). -
Video-based AI for beat-to-beat assessment of cardiac function
Ouyang, D., He, B., Ghorbani, A., Yuan, N., Ebinger, J., Langlotz, C. P., … Zou, J. Y. (2020). Video-based AI for beat-to-beat assessment of cardiac function. NATURE. -
Stretch-Induced Biased Signaling in Angiotensin II Type 1 and Apelin Receptors for the Mediation of Cardiac Contractility and Hypertrophy.
Seo, K., Parikh, V. N., & Ashley, E. A. (2020). Stretch-Induced Biased Signaling in Angiotensin II Type 1 and Apelin Receptors for the Mediation of Cardiac Contractility and Hypertrophy. Frontiers in Physiology, 11, 181. -
Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry.
Marstrand, P., Han, L., Day, S. M., Olivotto, I., Ashley, E. A., Michels, M., … Ho, C. Y. (2020). Hypertrophic Cardiomyopathy with Left Ventricular Systolic Dysfunction: Insights from the SHaRe Registry. Circulation. -
Accuracy of Smartphone Camera Applications for Detecting Atrial Fibrillation: A Systematic Review and Meta-analysis.
O'Sullivan, J. W., Grigg, S., Crawford, W., Turakhia, M. P., Perez, M., Ingelsson, E., … Ashley, E. A. (2020). Accuracy of Smartphone Camera Applications for Detecting Atrial Fibrillation: A Systematic Review and Meta-analysis. JAMA Network Open, 3(4), e202064. -
The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study
Shcherbina, A., Hershman, S. G., Lazzeroni, L., King, A. C., O'Sullivan, J. W., Hekler, E., … Ashley, E. A. (2019). The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study. LANCET DIGITAL HEALTH, 1(7), E344–E352. -
A DEEP LEARNING ALGORITHM ACCURATELY DETECTS PERICARDIAL EFFUSION ON ECHOCARDIOGRAPHY
Nayak, A., Ouyang, D., & Ashley, E. A. (2020). A DEEP LEARNING ALGORITHM ACCURATELY DETECTS PERICARDIAL EFFUSION ON ECHOCARDIOGRAPHY. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 75(11), 1563. -
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales, A., Kinnamon, D. D., Jordan, E., Platt, J., Vatta, M., Dorschner, M. O., … Hershberger, R. E. (2020). Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study. Circulation. Genomic and Precision Medicine, 13(2), e002480. -
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Marshall, C. R., Bick, D., Belmont, J. W., Taylor, S. L., Ashley, E., Dimmock, D., … Rehm, H. (2020). The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Medicine, 12(1), 48. -
Molecular Choreography of Acute Exercise.
Contrepois, K., Wu, S., Moneghetti, K. J., Hornburg, D., Ahadi, S., Tsai, M.-S. S., … Snyder, M. P. (2020). Molecular Choreography of Acute Exercise. Cell, 181(5), 1112–30.e16. -
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy.
Parikh, V. N., Caleshu, C., Reuter, C., Lazzeroni, L., Ingles, J., Kumar, S., … Ashley, E. A. (2018). Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy. CIRCULATION. LIPPINCOTT WILLIAMS & WILKINS. -
Silencing of MYH7 ameliorates disease phenotypes in human iPSC-Cardiomyocytes.
Dainis, A., Zaleta-Rivera, K., Ribeiro, A., Chang, A. C., Shang, C., Lan, F., … Ashley, E. A. (2020). Silencing of MYH7 ameliorates disease phenotypes in human iPSC-Cardiomyocytes. Physiological Genomics. -
Molecular Transducers of Physical Activity Consortium (MoTrPAC): Mapping the Dynamic Responses to Exercise.
Sanford, J. A., Nogiec, C. D., Lindholm, M. E., Adkins, J. N., Amar, D., Dasari, S., … Walsh, M. J. (2020). Molecular Transducers of Physical Activity Consortium (MoTrPAC): Mapping the Dynamic Responses to Exercise. Cell, 181(7), 1464–74. -
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy.
Helms, A. S., Thompson, A. D., Glazier, A. A., Hafeez, N., Kabani, S., Rodriguez, J., … Day, S. M. (2020). Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine. -
Apelin increases atrial conduction velocity, refractoriness, and prevents inducibility of atrial fibrillation.
Kim, Y. M., Lakin, R., Zhang, H., Liu, J., Sachedina, A., Singh, M., … Ashley, E. A. (2020). Apelin increases atrial conduction velocity, refractoriness, and prevents inducibility of atrial fibrillation. JCI Insight, 5(17). -
Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry.
Canepa, M., Fumagalli, C., Tini, G., Vincent-Tompkins, J., Day, S. M., Ashley, E. A., … Olivotto, I. (2020). Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry. Circulation. Heart Failure, CIRCHEARTFAILURE120007230. -
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
Zhang, X., Walsh, R., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., … Ware, J. S. (2020). Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Patient-Specific Induced Pluripotent Stem Cells Implicate Intrinsic Impaired Contractility in Hypoplastic Left Heart Syndrome.
Paige, S. L., Galdos, F. X., Lee, S., Chin, E. T., Ranjbarvaziri, S., Feyen, D. A., … Wu, S. M. (2020). Patient-Specific Induced Pluripotent Stem Cells Implicate Intrinsic Impaired Contractility in Hypoplastic Left Heart Syndrome. Circulation, 142(16), 1605–8. -
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Schoch, K., Esteves, C., Bican, A., Spillmann, R., Cope, H., McConkie-Rosell, A., … Shashi, V. (2020). Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Digital Health Applications for Pharmacogenetic Clinical Trials.
Naik, H., Palaniappan, L., Ashley, E. A., & Scott, S. A. (2020). Digital Health Applications for Pharmacogenetic Clinical Trials. Genes, 11(11). -
Cardiac Imaging of Aortic Valve Area from 34,287 UK Biobank Participants Reveal Novel Genetic Associations and Shared Genetic Comorbidity with Multiple Disease Phenotypes.
Córdova-Palomera, A., Tcheandjieu, C., Fries, J., Varma, P., Chen, V. S., Fiterau, M., … Priest, J. R. (2020). Cardiac Imaging of Aortic Valve Area from 34,287 UK Biobank Participants Reveal Novel Genetic Associations and Shared Genetic Comorbidity with Multiple Disease Phenotypes. Circulation. Genomic and Precision Medicine. -
Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy.
Lakdawala, N. K., Olivotto, I., Day, S. M., Han, L., Ashley, E. A., Michels, M., … Ho, C. Y. (2020). Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy. Circulation. Genomic and Precision Medicine. -
The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study.
Shcherbina, A., Hershman, S. G., Lazzeroni, L., King, A. C., O'Sullivan, J. W., Hekler, E., … Ashley, E. A. (2019). The effect of digital physical activity interventions on daily step count: a randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study. The Lancet. Digital Health, 1(7), e344–e352. -
Clinical utility of genomic sequencing: a measurement toolkit.
Hayeems, R. Z., Dimmock, D., Bick, D., Belmont, J. W., Green, R. C., Lanpher, B., … Ashley, E. (2020). Clinical utility of genomic sequencing: a measurement toolkit. NPJ Genomic Medicine, 5(1), 56. -
Precision Approach to Exercise Capacity and Outcome in Hypertrophic Cardiomyopathy, an International Multicenter Analysis
Lee, S.-P., Amar, D., Parikh, V., Myers, J., Wheeler, M., Jacoby, D., … Ashley, E. (2018). Precision Approach to Exercise Capacity and Outcome in Hypertrophic Cardiomyopathy, an International Multicenter Analysis. CIRCULATION. LIPPINCOTT WILLIAMS & WILKINS. -
Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks.
Amar, D., Sinnott-Armstrong, N., Ashley, E. A., & Rivas, M. A. (2021). Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nature Communications, 12(1), 350. -
Clinical utility of genomic sequencing: A measurement toolkit
Hayeems, R. Z., Dimmock, D., Bick, D., Belmont, J., Green, R., Lanpher, B., … Ashley, E. (2020). Clinical utility of genomic sequencing: A measurement toolkit. EUROPEAN JOURNAL OF HUMAN GENETICS, 28(SUPPL 1), 787. -
SARS-CoV-2 RNAaemia predicts clinical deterioration and extrapulmonary complications from COVID-19.
Ram-Mohan, N., Kim, D., Zudock, E. J., Hashemi, M. M., Tjandra, K. C., Rogers, A. J., … Yang, S. (2020). SARS-CoV-2 RNAaemia predicts clinical deterioration and extrapulmonary complications from COVID-19. MedRxiv : the Preprint Server for Health Sciences. -
Deep learning interpretation of echocardiograms.
Ghorbani, A., Ouyang, D., Abid, A., He, B., Chen, J. H., Harrington, R. A., … Zou, J. Y. (2020). Deep learning interpretation of echocardiograms. NPJ Digital Medicine, 3(1), 10. -
Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure.
Liu, C.-F., Ni, Y., Moravec, C. S., Morley, M., Ashley, E. A., Cappola, T. P., … Tang, W. H. (2021). Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure. Circulation. Genomic and Precision Medicine, CIRCGEN120003142. -
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., … Kohane, I. S. (2021). Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Mobile Health Monitoring of Cardiac Status
Christle, J. W., Hershman, S. G., Soto, J. T., & Ashley, E. A. (2020). Mobile Health Monitoring of Cardiac Status. ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE, VOL 3, 2020, 3, 243–63. -
Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
Krishnan, V., Utiramerur, S., Ng, Z., Datta, S., Snyder, M. P., & Ashley, E. A. (2021). Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays. BMC Bioinformatics, 22(1), 85. -
An Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction.
Riveros-Mckay, F., Weale, M. E., Moore, R., Selzam, S., Krapohl, E., Sivley, R. M., … Donnelly, P. (2021). An Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction. Circulation. Genomic and Precision Medicine. -
Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries.
Weale, M. E., Riveros-Mckay, F., Selzam, S., Seth, P., Moore, R., Tarran, W. A., … Donnelly, P. (2021). Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries. The American Journal of Cardiology. -
Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.
Jahng, J. W., Black, K. E., Liu, L., Bae, H. R., Perez, M., Ashley, E. A., … Wu, J. C. (2021). Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene. Stem Cell Research, 53, 102284. -
Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen, Y.-H., Zastrow, D. B., Metcalfe, R. D., Gartner, L., Krause, F., Morton, C. J., … Uhlig, H. H. (2021). Functional and structural analysis of cytokine selective IL6ST defects that cause recessive hyper-IgE syndrome. The Journal of Allergy and Clinical Immunology. -
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston, N. A., Han, L., Olivotto, I., Day, S. M., Ashley, E. A., Michels, M., … Ho, C. Y. (2021). Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy. European Heart Journal. -
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
Puckelwartz, M. J., Pesce, L. L., Dellefave-Castillo, L. M., Wheeler, M. T., Pottinger, T. D., Robinson, A. C., … McNally, E. M. (2021). Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy. Journal of the American Heart Association, e019944. -
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Thompson, A. D., Helms, A. S., Kannan, A., Yob, J., Lakdawala, N. K., Wittekind, S. G., … Day, S. M. (2021). Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. -
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain
Marbach, F., Stoyanov, G., Erger, F., Stratakis, C. A., Settas, N., London, E., … Schaaf, C. P. (2021). Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. GENETICS IN MEDICINE. -
SARS-CoV-2 RNAemia predicts clinical deterioration and extrapulmonary complications from COVID-19.
Ram-Mohan, N., Kim, D., Zudock, E. J., Hashemi, M. M., Tjandra, K. C., Rogers, A. J., … Yang, S. (2021). SARS-CoV-2 RNAemia predicts clinical deterioration and extrapulmonary complications from COVID-19. Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America. -
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases
Kyle, J. E., Stratton, K. G., Zink, E. M., Kim, Y.-M., Bloodsworth, K. J., Monroe, M. E., … Metz, T. O. (2021). A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. SCIENTIFIC DATA, 8(1), 114. -
Obesity is a Major Driver of Obstruction and Heart Failure in Hypertrophic Cardiomyopathy: Results From the International Share Registry
Fumagalli, C., Maurizi, N., Vincent-Tompkins, J., Ho, C. Y., Day, S. M., Ashley, E., … Olivotto, I. (2018). Obesity is a Major Driver of Obstruction and Heart Failure in Hypertrophic Cardiomyopathy: Results From the International Share Registry. CIRCULATION, 138. -
Impact of Race on Disease Expression and Clinical Outcomes in Hypertrophic Cardiomyopathy
Eberly, L. A., Ho, C., Cirino, A., Day, S., Olivotto, I., Ashley, E. A., … Lakdawala, N. (2018). Impact of Race on Disease Expression and Clinical Outcomes in Hypertrophic Cardiomyopathy. CIRCULATION, 138. -
Women With Hypertrophic Cardiomyopathy Experience Higher Rates of Heart Failure and Mortality Than Men - Results From the International Share Registry
Lakdawala, N. K., Olivotto, I., Day, S., Ashley, E., Pereira, A., Michels, M., … Ho, C. Y. (2018). Women With Hypertrophic Cardiomyopathy Experience Higher Rates of Heart Failure and Mortality Than Men - Results From the International Share Registry. CIRCULATION, 138. -
Women With Hypertrophic Cardiomyopathy: Obstructed and Underdiagnosed? Results From the International SHaRe Registry
Lakdawala, N. K., Olivotto, I., Day, S., Jacoby, D., Ashley, E., Michels, M., … Ho, C. Y. (2018). Women With Hypertrophic Cardiomyopathy: Obstructed and Underdiagnosed? Results From the International SHaRe Registry. CIRCULATION, 138. -
Functional Clustering of Non-Truncating Mutations in Myosin Binding Protein C That Cause Hypertrophic Cardiomyopathy
Thompson, A. D., Glazer, A., Hafeez, N., Rodriguez, J., Yob, J., Jacoby, D. L., … Day, S. M. (2018). Functional Clustering of Non-Truncating Mutations in Myosin Binding Protein C That Cause Hypertrophic Cardiomyopathy. CIRCULATION, 138. -
Peak Oxygen Consumption is an Independent Predictor of Survival and Outcomes in Obstructive and Non-Obstructive Hypertrophic Cardiomyopathy (HCM) Patients: Results From the International Sarcomeric Human Cardiomyopathies Registry SHaRe)
Vincent, T. J. D., Day, S. M., Jacoby, D. L., Colan, S. D., Olivotto, I., Ashley, E. A., … Ho, C. Y. (2018). Peak Oxygen Consumption is an Independent Predictor of Survival and Outcomes in Obstructive and Non-Obstructive Hypertrophic Cardiomyopathy (HCM) Patients: Results From the International Sarcomeric Human Cardiomyopathies Registry SHaRe). CIRCULATION, 138. -
Reclassifying Hypertrophic Cardiomyopathy Variants of Unknown Significance Based on Structural Determinants Improves Risk Stratification.
Garfinkel, A. C., Cirino, A. L., Day, S. M., Ashley, E. A., Michels, M., Colan, S. D., … Seidman, C. E. (2018). Reclassifying Hypertrophic Cardiomyopathy Variants of Unknown Significance Based on Structural Determinants Improves Risk Stratification. CIRCULATION, 138. -
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
Walsh, R., Mazzarotto, F., Whiffin, N., Buchan, R., Midwinter, W., Wilk, A., … Ware, J. S. (2019). Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy. GENOME MEDICINE, 11. -
Genome Sequencing in Hypertrophic Cardiomyopathy
Ashley, E. A., Reuter, C. M., & Wheeler, M. T. (2018). Genome Sequencing in Hypertrophic Cardiomyopathy. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 72(4), 430–433. -
Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort
Shcherbina, A., Mattsson, C. M., Waggott, D., Salisbury, H., Christle, J. W., Hastie, T., … Ashley, E. A. (2017). Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort. JOURNAL OF PERSONALIZED MEDICINE, 7(2). -
Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals with Atrial Fibrillation.
O'Sullivan, J. W., Shcherbina, A., Justesen, J. M., Turakhia, M., Perez, M., Wand, H., … Ashley, E. A. (2021). Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals with Atrial Fibrillation. Circulation. Genomic and Precision Medicine. -
Smartphone-Based VO2max Measurement With Heart Snapshot in Clinical and Real-world Settings With a Diverse Population: Validation Study.
Webster, D. E., Tummalacherla, M., Higgins, M., Wing, D., Ashley, E., Kelly, V. E., … Omberg, L. (2021). Smartphone-Based VO2max Measurement With Heart Snapshot in Clinical and Real-world Settings With a Diverse Population: Validation Study. JMIR MHealth and UHealth, 9(6), e26006. -
Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease.
Weldy, C. S., & Ashley, E. A. (2021). Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease. Circulation. Genomic and Precision Medicine, CIRCGEN121003430. -
Towards precision medicine in heart failure.
Weldy, C. S., & Ashley, E. A. (2021). Towards precision medicine in heart failure. Nature Reviews. Cardiology. -
Time trajectories in the transcriptomic response to exercise - a meta-analysis.
Amar, D., Lindholm, M. E., Norrbom, J., Wheeler, M. T., Rivas, M. A., & Ashley, E. A. (2021). Time trajectories in the transcriptomic response to exercise - a meta-analysis. Nature Communications, 12(1), 3471. -
Multi-omic profiling reveals widespread dysregulation of innate immunity and hematopoiesis in COVID-19.
Wilk, A. J., Lee, M. J., Wei, B., Parks, B., Pi, R., Martinez-Colon, G. J., … Blish, C. A. (2021). Multi-omic profiling reveals widespread dysregulation of innate immunity and hematopoiesis in COVID-19. The Journal of Experimental Medicine, 218(8). -
Mapping the human genetic architecture of COVID-19.
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Combining digital data and artificial intelligence for cardiovascular health.
Soto, J. T., Hershman, S. G., & Ashley, E. A. (2021). Combining digital data and artificial intelligence for cardiovascular health. Cardiovascular Research, 117(9), e116–e117. -
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Kohler, J. N., Kelley, E. G., Boyd, B. M., Sillari, C. H., Marwaha, S., & Wheeler, M. T. (2021). Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. Journal of Genetic Counseling. -
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal, V., Marstrand, P., Han, L., Parikh, V. N., Helms, A. S., Ingles, J., … Ho, C. Y. (2021). Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal. -
Multi-task deep learning for cardiac rhythm detection in wearable devices.
Torres-Soto, J., & Ashley, E. A. (2020). Multi-task deep learning for cardiac rhythm detection in wearable devices. NPJ Digital Medicine, 3(1), 116. -
The genetics of human performance.
Kim, D. S., Wheeler, M. T., & Ashley, E. A. (2021). The genetics of human performance. Nature Reviews. Genetics. -
Utility Of Cardiopulmonary Exercise Testing In Chronic Unexplained Dyspnea In A 77 Year Old Female
Christle, J. W., Andruska, A. M., Moneghetti, K. J., Wheeler, M. T., Ashley, E. A., Myers, J., & Ruoss, S. (2021). Utility Of Cardiopulmonary Exercise Testing In Chronic Unexplained Dyspnea In A 77 Year Old Female. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE. LIPPINCOTT WILLIAMS & WILKINS. -
Predicting Peak VO2 In Clinical Populations With Obesity
Busque, V., Monegheetti, K. J., Ashley, E. A., Wheeler, M. T., Haddad, F., Myers, J., & Christle, J. W. (2021). Predicting Peak VO2 In Clinical Populations With Obesity. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE. LIPPINCOTT WILLIAMS & WILKINS. -
Respiratory Gas Kinetics After Maximal Exercise In Patients Referred For Cardiopulmonary Exercise Testing
Christle, J. W., Patti, A., Blumberg, Y., Neunhaeuserer, D., Ashley, E. A., Haddad, F., … Moneghetti, K. J. (2021). Respiratory Gas Kinetics After Maximal Exercise In Patients Referred For Cardiopulmonary Exercise Testing. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE. LIPPINCOTT WILLIAMS & WILKINS. -
Cardiopulmonary Exercise Testing With Echocardiography to Assess Recovery in Patients With Ventricular Assist Devices.
Christle, J. W., Moneghetti, K. J., Duclos, S., Mueller, S., Moayedi, Y., Khush, K. K., … Banerjee, D. (2021). Cardiopulmonary Exercise Testing With Echocardiography to Assess Recovery in Patients With Ventricular Assist Devices. ASAIO Journal (American Society for Artificial Internal Organs : 1992), 67(10), 1134–1138. -
Phenotypic Expression, Natural History and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Gigli, M., Stolfo, D., Graw, S., Merlo, M., Gregorio, C., Chen, S. N., … Mestroni, L. (2021). Phenotypic Expression, Natural History and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Circulation. -
Disruption of Protein Quality Control of Human Ether-a-go-go Related Gene K+ Channel Results in Profound Long QT Syndrome.
Ledford, H. A., Ren, L., Thai, P. N., Park, S., Timofeyev, V., Sirish, P., … Chiamvimonvat, N. (2021). Disruption of Protein Quality Control of Human Ether-a-go-go Related Gene K+ Channel Results in Profound Long QT Syndrome. Heart Rhythm. -
Deep learning evaluation of biomarkers from echocardiogram videos.
Hughes, J. W., Yuan, N., He, B., Ouyang, J., Ebinger, J., Botting, P., … Zou, J. Y. (2021). Deep learning evaluation of biomarkers from echocardiogram videos. EBioMedicine, 73, 103613. -
Comparison of the FRIEND and Wasserman-Hansen Equations in Predicting Outcomes in Heart Failure.
Myers, J., de Souza E Silva, C. G., Arena, R., Kaminsky, L., Christle, J. W., Busque, V., … Moneghetti, K. (2021). Comparison of the FRIEND and Wasserman-Hansen Equations in Predicting Outcomes in Heart Failure. Journal of the American Heart Association, e021246. -
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Lindholm, M. E., Jimenez-Morales, D., Zhu, H., Seo, K., Amar, D., Zhao, C., … Wheeler, M. T. (2021). Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Circulation. Genomic and Precision Medicine, CIRCGEN121003419. -
Designing clinically translatable artificial intelligence systems for high-dimensional medical imaging
Shad, R., Cunningham, J. P., Ashley, E. A., Langlotz, C. P., & Hiesinger, W. (2021). Designing clinically translatable artificial intelligence systems for high-dimensional medical imaging. NATURE MACHINE INTELLIGENCE, 3(11), 929–935. -
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
Gorzynski, J. E., Goenka, S. D., Shafin, K., Jensen, T. D., Fisk, D. G., Grove, M. E., … Ashley, E. A. (2022). Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting. The New England Journal of Medicine. -
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.
Gorzynski, J. E., Goenka, S. D., Shafin, K., Jensen, T. D., Fisk, D. G., Grove, M. E., … Ashley, E. A. (2022). Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock. Circulation. Genomic and Precision Medicine, CIRCGEN121003591. -
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.
Tomar, S., Klinzing, D. C., Kit, C. C., Gan, L. H., Moscarello, T., Reuter, C., … Foo, R. (2022). Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort. Circulation. Genomic and Precision Medicine, CIRCGEN121003536. -
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Cannata, A., Merlo, M., Dal Ferro, M., Barbati, G., Manca, P., Paldino, A., … Sinagra, G. (2022). Association of Titin Variations With Late-Onset Dilated Cardiomyopathy. JAMA Cardiology. -
Titin mutations and female sex characterize dilated cardiomyopathy in the elderly
Cannata, A., Merlo, M., Dal Ferro, M., Manca, P., Paldino, A., Barbati, G., … Sinagra, G. (2021). Titin mutations and female sex characterize dilated cardiomyopathy in the elderly. EUROPEAN HEART JOURNAL SUPPLEMENTS. OXFORD UNIV PRESS. -
High-Throughput Precision Phenotyping of Left Ventricular Hypertrophy With Cardiovascular Deep Learning.
Duffy, G., Cheng, P. P., Yuan, N., He, B., Kwan, A. C., Shun-Shin, M. J., … Ouyang, D. (2022). High-Throughput Precision Phenotyping of Left Ventricular Hypertrophy With Cardiovascular Deep Learning. JAMA Cardiology. -
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha, S., Knowles, J. W., & Ashley, E. A. (2022). A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Medicine, 14(1), 23. -
A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States.
Halley, M. C., Smith, H. S., Ashley, E. A., Goldenberg, A. J., & Tabor, H. K. (2022). A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States. Nature Genetics. -
Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD.
Schnurr, T. M., Katz, S. F., Justesen, J. M., O'Sullivan, J. W., Saliba-Gustafsson, P., Assimes, T. L., … Knowles, J. W. (2022). Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD. Hepatology Communications. -
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Goenka, S. D., Gorzynski, J. E., Shafin, K., Fisk, D. G., Pesout, T., Jensen, T. D., … Ashley, E. A. (2022). Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing. Nature Biotechnology. -
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde, A. A., Semsarian, C., Marquez, M. F., Sepehri Shamloo, A., Ackerman, M. J., Ashley, E. A., … Kaufman, E. S. (2022). European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology. -
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde, A. A., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., … Kaufman, E. S. (2022). European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Heart Rhythm. -
ANALYZING PROGRESSION OF DISEASE IN HYPERTROPHIC CARDIOMYOPATHY UTILIZING SEQUENTIAL CARDIOPULMONARY EXERCISE TESTING
Devareddy, A., Busque, V., Haddad, F., Myers, J. N., Christle, J., Ashley, E. A., & Wheeler, M. T. (2022). ANALYZING PROGRESSION OF DISEASE IN HYPERTROPHIC CARDIOMYOPATHY UTILIZING SEQUENTIAL CARDIOPULMONARY EXERCISE TESTING. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. ELSEVIER SCIENCE INC. -
Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.
Turner, A. W., Hu, S. S., Mosquera, J. V., Ma, W. F., Hodonsky, C. J., Wong, D., … Miller, C. L. (2022). Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk. Nature Genetics. -
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.
De Jong, H. N., Dewey, F. E., Cordero, P., Victorio, R. A., Kirillova, A., Huang, Y., … Ashley, E. A. (2022). Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy. Circulation. Genomic and Precision Medicine, 101161CIRCGEN121003563. -
Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry
Gimeno, J. R., Olivotto, I., Isabel Rodriguez, A., Ho, C. Y., Fernandez, A., Quiroga, A., … Lakdawala, N. K. (2022). Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry. ESC HEART FAILURE. -
Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk.
Turner, A. W., Hu, S. S., Mosquera, J. V., Ma, W. F., Hodonsky, C. J., Wong, D., … Miller, C. L. (2022). Author Correction: Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk. Nature Genetics. -
Supporting undiagnosed participants when clinical genomics studies end.
Halley, M. C., Ashley, E. A., & Tabor, H. K. (2022). Supporting undiagnosed participants when clinical genomics studies end. Nature Genetics. -
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
Wilde, A. A. M., Semsarian, C., Marquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., … Deneke, T. (2022). European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. JOURNAL OF ARRHYTHMIA. -
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde, A. A., Semsarian, C., Márquez, M. F., Sepehri Shamloo, A., Ackerman, M. J., Ashley, E. A., … Deneke, T. (2022). European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Journal of Arrhythmia, 38(4), 491–553. -
Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association
O'Sullivan, J. W., Raghavan, S., Marquez-Luna, C., Luzum, J. A., Damrauer, S. M., Ashley, E. A., … Natarajan, P. (2022). Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association. CIRCULATION, 146(8), E93–E118. -
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy.
Parikh, V. N., Ioannidis, A. G., Jimenez-Morales, D., Gorzynski, J. E., De Jong, H. N., Liu, X., … Ashley, E. A. (2022). Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy. Nature Communications, 13(1), 5107. -
Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics.
Kim, D. S., Wiel, L., & Ashley, E. A. (2022). Mind the Gap: The Complete Human Genome Unlocks Benefits for Clinical Genomics. Clinical Chemistry. -
Mobile Health Study Incorporating Novel Fitness Test.
Johnson, A., Hershman, S. G., Javed, A., Mattsson, C. M., Christle, J., Oppezzo, M., & Ashley, E. A. (2022). Mobile Health Study Incorporating Novel Fitness Test. Journal of Cardiovascular Translational Research. -
Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.
Gimeno, J. R., Olivotto, I., Rodríguez, A. I., Ho, C. Y., Fernández, A., Quiroga, A., … Lakdawala, N. K. (2022). Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry. ESC Heart Failure, 9(4), 2189–2198. -
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal, V., Marstrand, P., Han, L., Parikh, V. N., Helms, A. S., Ingles, J., … Ho, C. Y. (2021). Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal, 42(38), 3932–3944. -
Case-Control cardiopulmonary exercise testing for patients with neuromuscular disease
Duong, T., Parker, D., Stevens, V., Young, S. D., Tang, W., Myers, J., … Christle, J. (2022). Case-Control cardiopulmonary exercise testing for patients with neuromuscular disease. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD. -
Polygenic risk scores for the prediction of cardiometabolic disease.
O'Sullivan, J. W., Ashley, E. A., & Elliott, P. M. (2022). Polygenic risk scores for the prediction of cardiometabolic disease. European Heart Journal. -
Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study.
MacRae, C. A., Taylor, M. R., Mestroni, L., Moses, J., Ashley, E. A., Wheeler, M. T., … Judge, D. P. (2022). Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and Precision Medicine, e003730. -
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Hoorntje, E. T., Burns, C., Marsili, L., Corden, B., Parikh, V. N., Te Meerman, G. J., … Ingles, J. (2022). Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. Circulation. Genomic and Precision Medicine, e003672. -
Defining left ventricular remodeling using lean body mass allometry: a UK Biobank study.
Gomes, B., Hedman, K., Kuznetsova, T., Cauwenberghs, N., Hsu, D., Kobayashi, Y., … Haddad, F. (2023). Defining left ventricular remodeling using lean body mass allometry: a UK Biobank study. European Journal of Applied Physiology. -
Generation of two human iPSC lines with Exon 3 mutations in BCL2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients.
Zushin, P.-J. H., Zhou, Y., Li, A., Ashley, E. A., Wheeler, M. T., & Wu, J. C. (2023). Generation of two human iPSC lines with Exon 3 mutations in BCL2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients. Stem Cell Research, 67, 103019. -
Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt, M., Badillo-Lisakowski, V., Parikh, V. N., Ashley, E., Furtado, M., Carmo-Fonseca, M., … Leinwand, L. (2023). Cardiac splicing as a diagnostic and therapeutic target. Nature Reviews. Cardiology. -
Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene.
MacRae, C. A., Taylor, M. R., Mestroni, L., Moses, J., Ashley, E. A., Wheeler, M. T., … Judge, D. P. (2023). Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene. Future Cardiology. -
Multimodal deep learning enhances diagnostic precision in left ventricular hypertrophy.
Soto, J. T., Weston Hughes, J., Sanchez, P. A., Perez, M., Ouyang, D., & Ashley, E. A. (2022). Multimodal deep learning enhances diagnostic precision in left ventricular hypertrophy. European Heart Journal. Digital Health, 3(3), 380–389. -
Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest.
Floyd, B. J., Weile, J., Kannankeril, P. J., Glazer, A. M., Reuter, C. M., MacRae, C. A., … Parikh, V. N. (2023). Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest. Circulation. Genomic and Precision Medicine. -
Temporal dynamics of the multi-omic response to endurance exercise training across tissues
Gay, N. R., Beltran, P. M. J., Amar, D., Montgomery, S. B., & Carr, S. A. (2022). Temporal dynamics of the multi-omic response to endurance exercise training across tissues. MOLECULAR & CELLULAR PROTEOMICS. ELSEVIER. -
ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19
Garcia-Gallo, E., Merson, L., Kennon, K., Kelly, S., Citarella, B. W., Fryer, D. V., … Reyes, L. F. (2022). ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19. SCIENTIFIC DATA, 9(1), 454. -
Participation in a national diagnostic research study: assessing the patient experience.
Rosenfeld, L. E., LeBlanc, K., Nagy, A., Ego, B. K., & McCray, A. T. (2023). Participation in a national diagnostic research study: assessing the patient experience. Orphanet Journal of Rare Diseases, 18(1), 73. -
Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy.
Lampert, R., Ackerman, M. J., Marino, B. S., Burg, M., Ainsworth, B., Salberg, L., … Day, S. M. (2023). Vigorous Exercise in Patients With Hypertrophic Cardiomyopathy. JAMA Cardiology. -
CHARACTERIZATION OF TWO NOVEL DNASE1L3 VARIANTS IN A PATIENT WITH A MONOGENIC FORM OF SYSTEMIC LUPUS ERYTHEMATOSUS
Leon, A., Vera, P. L., Bonner, D., Kohler, J., Reuter, C., Zastrow, D., … Gomez-Ospina, N. (2023). CHARACTERIZATION OF TWO NOVEL DNASE1L3 VARIANTS IN A PATIENT WITH A MONOGENIC FORM OF SYSTEMIC LUPUS ERYTHEMATOSUS. JOURNAL OF INVESTIGATIVE MEDICINE. SAGE PUBLICATIONS LTD. -
HOMOZYGOUS FRAMESHIFT VARIANT IN LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN 3 IN A PATIENT WITH INTERSTITIAL LUNG DISEASE DUE TO POSSIBLE SURFACTANT PROTEIN DYSFUNCTION
Keehan, L., Bonner, D., Kravets, E., Kohler, J., Reuter, C., Marwaha, S., … Bernstein, J. A. (2023). HOMOZYGOUS FRAMESHIFT VARIANT IN LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEIN 3 IN A PATIENT WITH INTERSTITIAL LUNG DISEASE DUE TO POSSIBLE SURFACTANT PROTEIN DYSFUNCTION. JOURNAL OF INVESTIGATIVE MEDICINE. SAGE PUBLICATIONS LTD. -
Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry (Sarcomeric Human Cardiomyopathy).
Alaiwi, S. A., Roston, T. M., Marstrand, P., Claggett, B. L., Parikh, V. N., Helms, A. S., … Ho, C. Y. (2023). Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry (Sarcomeric Human Cardiomyopathy). Circulation. -
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., … Tabor, H. K. (2023). Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. The Journal of Pediatrics, 113537. -
Respiratory gas kinetics in patients with congestive heart failure during recovery from peak exercise.
Patti, A., Blumberg, Y., Hedman, K., Neunhäuserer, D., Haddad, F., Wheeler, M., … Christle, J. W. (2023). Respiratory gas kinetics in patients with congestive heart failure during recovery from peak exercise. Clinics (Sao Paulo, Brazil), 78, 100225. -
Artificial Intelligence in Molecular Medicine.
Gomes, B., & Ashley, E. A. (2023). Artificial Intelligence in Molecular Medicine. The New England Journal of Medicine, 388(26), 2456–2465. -
Wearable technology and the cardiovascular system: the future of patient assessment.
Williams, G. J., Al-Baraikan, A., Rademakers, F. E., Ciravegna, F., van de Vosse, F. N., Lawrie, A., … Morris, P. D. (2023). Wearable technology and the cardiovascular system: the future of patient assessment. The Lancet. Digital Health, 5(7), e467–e476. -
Right Ventricular Dysfunction Patterns Among Patients with COVID-19 in the Intensive Care Unit - a Retrospective Cohort Analysis.
Sanchez, P. A., O'Donnell, C. T., Francisco, N., Santana, E. J., Moore, A. R., Pacheco-Navarro, A., … Rogers, A. J. (2023). Right Ventricular Dysfunction Patterns Among Patients with COVID-19 in the Intensive Care Unit - a Retrospective Cohort Analysis. Annals of the American Thoracic Society. -
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm, H. L., Alaimo, J. T., Aradhya, S., Bayrak-Toydemir, P., Best, H., Brandon, R., … Zouk, H. (2023). The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 100947. -
The Stanford Medicine data science ecosystem for clinical and translational research.
Callahan, A., Ashley, E., Datta, S., Desai, P., Ferris, T. A., Fries, J. A., … Shah, N. H. (2023). The Stanford Medicine data science ecosystem for clinical and translational research. JAMIA Open, 6(3), ooad054. -
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care
Halley, M. C., Young, J. L., Tang, C., Mintz, K. T., Lucas-Griffin, S., Maghiro, A. S., … Undiagnosed Diseases Network. (2023). Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. JOURNAL OF PEDIATRICS, 261. -
Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure.
Cannie, D. E., Syrris, P., Protonotarios, A., Bakalakos, A., Pruny, J.-F. F., Ditaranto, R., … Elliott, P. M. (2023). Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. European Heart Journal. -
Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial.
Vissing, C. R., Axelsson Raja, A., Day, S. M., Russell, M. W., Zahka, K., Lever, H. M., … Ho, C. Y. (2023). Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial. JAMA Cardiology. -
A deep learning-based electrocardiogram risk score for long term cardiovascular death and disease.
Hughes, J. W., Tooley, J., Torres Soto, J., Ostropolets, A., Poterucha, T., Christensen, M. K., … Perez, M. V. (2023). A deep learning-based electrocardiogram risk score for long term cardiovascular death and disease. NPJ Digital Medicine, 6(1), 169. -
Development and validation of a rapid visual technique for left ventricular hypertrophy detection from the electrocardiogram.
Somani, S., Hughes, J. W., Ashley, E. A., Witteles, R. M., & Perez, M. V. (2023). Development and validation of a rapid visual technique for left ventricular hypertrophy detection from the electrocardiogram. Frontiers in Cardiovascular Medicine, 10, 1251511. -
COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning.
Salek, M., Li, N., Chou, H.-P., Saini, K., Jovic, A., Jacobs, K. B., … Masaeli, M. M. (2023). COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning. Communications Biology, 6(1), 971. -
Artificial Intelligence in Molecular Medicine. Reply.
Gomes, B., & Ashley, E. A. (2023). Artificial Intelligence in Molecular Medicine. Reply. The New England Journal of Medicine, 389(13), 1252. -
Personalized digital behaviour interventions increase short-term physical activity: a randomized control crossover trial substudy of the MyHeart Counts Cardiovascular Health Study.
Javed, A., Kim, D. S., Hershman, S. G., Shcherbina, A., Johnson, A., Tolas, A., … Ashley, E. A. (2023). Personalized digital behaviour interventions increase short-term physical activity: a randomized control crossover trial substudy of the MyHeart Counts Cardiovascular Health Study. European Heart Journal. Digital Health, 4(5), 411–419. -
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., … Petrovski, S. (2023). Rare variant associations with plasma protein levels in the UK Biobank. Nature. -
Author Correction: COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning.
Salek, M., Li, N., Chou, H.-P. P., Saini, K., Jovic, A., Jacobs, K. B., … Masaeli, M. M. (2023). Author Correction: COSMOS: a platform for real-time morphology-based, label-free cell sorting using deep learning. Communications Biology, 6(1), 1023. -
A 3' UTR Deletion Is a Leading Candidate Causal Variant at the TMEM106B Locus Reducing Risk for FTLD-TDP.
Chemparathy, A., Le Guen, Y., Zeng, Y., Gorzynski, J., Jensen, T., Kasireddy, N., … Greicius, M. D. (2023). A 3' UTR Deletion Is a Leading Candidate Causal Variant at the TMEM106B Locus Reducing Risk for FTLD-TDP. MedRxiv : the Preprint Server for Health Sciences. -
Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-ß-Blocking R-Enantiomer Carvedilol.
Seo, K., Yamamoto, Y., Kirillova, A., Kawana, M., Yadav, S., Huang, Y., … Ashley, E. A. (2023). Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-ß-Blocking R-Enantiomer Carvedilol. Circulation. -
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.
Chemparathy, A., Guen, Y. L., Chen, S., Lee, E.-G. G., Leong, L., Gorzynski, J., … Greicius, M. D. (2023). APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology. MedRxiv : the Preprint Server for Health Sciences. -
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov, A., Cook, D., Nattestad, M., McNulty, B., Gorzynski, J., Goenka, S., … Shafin, K. (2023). Local read haplotagging enables accurate long-read small variant calling. BioRxiv : the Preprint Server for Biology. -
Almanac: Retrieval-Augmented Language Models for Clinical Medicine.
Zakka, C., Chaurasia, A., Shad, R., Dalal, A. R., Kim, J. L., Moor, M., … Hiesinger, W. (2023). Almanac: Retrieval-Augmented Language Models for Clinical Medicine. Research Square. -
The mitochondrial multi-omic response to exercise training across tissues.
Amar, D., Gay, N. R., Jimenez-Morales, D., Beltran, P. M., Ramaker, M. E., Raja, A. N., … Lindholm, M. E. (2023). The mitochondrial multi-omic response to exercise training across tissues. BioRxiv : the Preprint Server for Biology. -
Two epilepsy-associated variants in KCNA2 (KV1.2) at position H310 oppositely affect channel functional expression.
Minguez-Vinas, T., Prakash, V., Wang, K., Lindstrom, S. H., Pozzi, S., Scott, S. A., … Pantazis, A. (2023). Two epilepsy-associated variants in KCNA2 (KV1.2) at position H310 oppositely affect channel functional expression. The Journal of Physiology. -
Assessment of maximal effort for weaker individuals with NMD during the assisted six-minute cycling test
Blumberg, Y., De Monts, C., Tang, W., Montalvo, S., Ataide, P., Young, S. D., … Duong, T. (2023). Assessment of maximal effort for weaker individuals with NMD during the assisted six-minute cycling test. NEUROMUSCULAR DISORDERS. PERGAMON-ELSEVIER SCIENCE LTD. -
Epistasis regulates genetic control of cardiac hypertrophy.
Wang, Q., Tang, T. M., Youlton, N., Weldy, C. S., Kenney, A. M., Ronen, O., … Ashley, E. A. (2023). Epistasis regulates genetic control of cardiac hypertrophy. MedRxiv : the Preprint Server for Health Sciences. -
Rare variant associations with plasma protein levels in the UK Biobank
Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., … Petrovski, S. (2023). Rare variant associations with plasma protein levels in the UK Biobank. NATURE. -
Epistasis regulates genetic control of cardiac hypertrophy.
Wang, Q., Tang, T. M., Youlton, N., Weldy, C. S., Kenney, A. M., Ronen, O., … Ashley, E. A. (2023). Epistasis regulates genetic control of cardiac hypertrophy. Research Square. -
Genetic architecture of cardiac dynamic flow volumes.
Gomes, B., Singh, A., O'Sullivan, J. W., Schnurr, T. M., Goddard, P. C., Loong, S., … Ashley, E. A. (2023). Genetic architecture of cardiac dynamic flow volumes. Nature Genetics. -
Race, Sex, and Age Disparities in the Performance of ECG Deep Learning Models Predicting Heart Failure.
Kaur, D., Hughes, J. W., Rogers, A. J., Kang, G., Narayan, S. M., Ashley, E. A., & Perez, M. V. (2023). Race, Sex, and Age Disparities in the Performance of ECG Deep Learning Models Predicting Heart Failure. Circulation. Heart Failure, e010879. -
Unsupervised machine learning to investigate trajectory patterns of COVID-19 symptoms and physical activity measured via the MyHeart Counts App and smart devices.
Gupta, V., Kariotis, S., Rajab, M. D., Errington, N., Alhathli, E., Jammeh, E., … Lawrie, A. (2023). Unsupervised machine learning to investigate trajectory patterns of COVID-19 symptoms and physical activity measured via the MyHeart Counts App and smart devices. NPJ Digital Medicine, 6(1), 239. -
Long term outcome after septal reduction therapies in patients with hypertrophic cardiomyopathy: insights from the SHaRe registry
Maurizi, N., Day, S., Ashley, E., Michels, M., Pereira, A. C., Helms, A., … Olivotto, I. (2023). Long term outcome after septal reduction therapies in patients with hypertrophic cardiomyopathy: insights from the SHaRe registry. EUROPEAN HEART JOURNAL. OXFORD UNIV PRESS. -
A fast, novel technique for detection of left ventricular hypertrophy by electrocardiography
Somani, S., Hughes, J. W., Ashley, E. A., Witteles, R. M., & Perez, M. V. (2023). A fast, novel technique for detection of left ventricular hypertrophy by electrocardiography. EUROPEAN HEART JOURNAL. OXFORD UNIV PRESS. -
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology.
Chemparathy, A., Le Guen, Y., Chen, S., Lee, E.-G. G., Leong, L., Gorzynski, J. E., … Greicius, M. D. (2024). APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology. Neuron. -
Improving Reporting of Exercise Capacity Across Age Ranges Using Novel Workload Reference Equations.
Santana, E. J., Christle, J. W., Cauwenberghs, N., Peterman, J. E., Busque, V., Gomes, B., … Haddad, F. (2024). Improving Reporting of Exercise Capacity Across Age Ranges Using Novel Workload Reference Equations. The American Journal of Cardiology. -
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort, S., Mohassel, P., O'Leary, M., Bonner, D. E., Hartley, T., Acquaye, N., … Bönnemann, C. G. (2024). Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of Clinical and Translational Neurology. -
Almanac - Retrieval-Augmented Language Models for Clinical Medicine.
Zakka, C., Shad, R., Chaurasia, A., Dalal, A. R., Kim, J. L., Moor, M., … Hiesinger, W. (2024). Almanac - Retrieval-Augmented Language Models for Clinical Medicine. NEJM AI, 1(2). -
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing.
Russell, C., Campion, M. A., Grove, M. E., Matsuda, K., Klein, T. E., Ashley, E., … Scott, S. A. (2024). Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing. Clinical and Translational Science, 17(3), e13737. -
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.
Pucel, J., Briere, L. C., Reuter, C., Gochyyev, P., & LeBlanc, K. (2024). Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 101115. -
Quantifying assumptions underlying peak oxygen consumption equations across the body mass spectrum.
Busque, V., Christle, J. W., Moneghetti, K. J., Cauwenberghs, N., Kouznetsova, T., Blumberg, Y., … Myers, J. (2024). Quantifying assumptions underlying peak oxygen consumption equations across the body mass spectrum. Clinical Obesity, e12653. -
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy.
Krysov, V. A., Wilson, R. H., Ten, N. S., Youlton, N., De Jong, H. N., Sutton, S., … Parikh, V. N. (2024). Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy. Circulation. Genomic and Precision Medicine, e004370. -
Deep learning to detect left ventricular structural abnormalities in chest X-rays.
Bhave, S., Rodriguez, V., Poterucha, T., Mutasa, S., Aberle, D., Capaccione, K. M., … Elias, P. (2024). Deep learning to detect left ventricular structural abnormalities in chest X-rays. European Heart Journal. -
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Jobanputra, V., Schroeder, B., Rehm, H. L., Shen, W., Spiteri, E., Nakouzi, G., … Taft, R. J. (2024). Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action. NPJ Genomic Medicine, 9(1), 23. -
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen, T. D., Ni, B., Reuter, C. M., Gorzynski, J. E., Fazal, S., Bonner, D., … Battle, A. (2024). Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. MedRxiv : the Preprint Server for Health Sciences. -
Learning epistatic polygenic phenotypes with Boolean interactions.
Behr, M., Kumbier, K., Cordova-Palomera, A., Aguirre, M., Ronen, O., Ye, C., … Yu, B. (2024). Learning epistatic polygenic phenotypes with Boolean interactions. PloS One, 19(4), e0298906. -
The impact of exercise on gene regulation in association with complex trait genetics.
Vetr, N. G., Gay, N. R., & Montgomery, S. B. (2024). The impact of exercise on gene regulation in association with complex trait genetics. Nature Communications, 15(1), 3346. -
Sexual dimorphism and the multi-omic response to exercise training in rat subcutaneous white adipose tissue.
Many, G. M., Sanford, J. A., Sagendorf, T. J., Hou, Z., Nigro, P., Whytock, K. L., … Schenk, S. (2024). Sexual dimorphism and the multi-omic response to exercise training in rat subcutaneous white adipose tissue. Nature Metabolism. -
The mitochondrial multi-omic response to exercise training across rat tissues.
Amar, D., Gay, N. R., Jimenez-Morales, D., Jean Beltran, P. M., Ramaker, M. E., Raja, A. N., … Lindholm, M. E. (2024). The mitochondrial multi-omic response to exercise training across rat tissues. Cell Metabolism.
Clinical Trials
Clinical trials are research studies that evaluate a new medical approach, device, drug, or other treatment. As a Stanford Health Care patient, you may have access to the latest, advanced clinical trials.
Open trials refer to studies currently accepting participants. Closed trials are not currently enrolling, but may open in the future.
- MyHeart Counts Cardiovascular Health Study »
- Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure »
- Exercise in Genetic Cardiovascular Conditions »
- Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network »
- DCM Precision Medicine Study »
- Rapid Turnaround, Home-based Saliva Testing for COVID-19 »
- Study of Exercise Training in Hypertrophic Cardiomyopathy »
- Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM »
- MyHeart Counts: Stanford Mobile Cardiovascular Health Study 3.0 »
- Personal Genomics for Preventive Cardiology »
Practice Locations
Hypertrophic Cardiomyopathy Center Stanford, CA
Stanford, CAHypertrophic Cardiomyopathy Center
300 Pasteur Drive , 2nd Floor, Room A260
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Center for Inherited Cardiovascular Disease at Stanford Stanford, CA
Stanford, CACenter for Inherited Cardiovascular Disease at Stanford
300 Pasteur Drive, Heart Clinic 1, Clinic A21
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Heart Failure Clinic at Stanford Stanford, CA
Stanford, CAHeart Failure Clinic at Stanford
300 Pasteur Drive , 2nd Floor, Room A260
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Stanford Sports Cardiology Stanford, CA
Stanford, CAStanford Sports Cardiology
300 Pasteur Drive , 2nd Floor, Room A260
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Hypertension Center Stanford, CA
Stanford, CAHypertension Center
300 Pasteur Drive, 1st Floor, Suite A11
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Clinical Genomics in Palo Alto Palo Alto, CA
Palo Alto, CAClinical Genomics in Palo Alto
900 Blake Wilbur Drive
Palo Alto , CA 94304
Make An Appointment More Clinic Information » Getting Here »Heart Transplant Program Stanford, CA
Stanford, CAHeart Transplant Program
300 Pasteur Drive , 2nd Floor, Room A21
Stanford , CA 94305
Make An Appointment More Clinic Information » Getting Here »Important Information about Our Organizations and Physician Affiliation
Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are each independent nonprofit organizations that are affiliated with but separate from each other and from Stanford University. The physicians who provide care at facilities operated by Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners are faculty, foundation, or community physicians who are not employees, representatives, or agents of Stanford Health Care, Stanford Health Care Tri- Valley, or Stanford Medicine Partners. Stanford Health Care, Stanford Health Care Tri-Valley, and Stanford Medicine Partners do not exercise control over the care provided by such faculty, foundation, and community physicians and are not responsible for their actions.
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Referring Physicians
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