Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy.
Zhu, X., Wheeler, M. T., Hadhazy, M., Lam, M.-Y. J., & McNally, E. M. (2002). Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy. FASEB Journal , 16(9), 1096–1098.

Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K-ATP channels
Chutkow, W. A., Pu, J. L., Wheeler, M. T., Wada, T., Makielski, J. C., Burant, C. F., & McNally, E. M. (2002). Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K-ATP channels. JOURNAL OF CLINICAL INVESTIGATION, 110(2), 203–208.

zeta-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy
Wheeler, M. T., Zarnegar, S., & McNally, E. M. (2002). zeta-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. HUMAN MOLECULAR GENETICS, 11(18), 2147–2154.

Cytoskeletal defects in cardiomyopathy
McNally, E., Allikian, M., Wheeler, M. T., Mislow, J. M., & Heydemann, A. (2003). Cytoskeletal defects in cardiomyopathy. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 35(3), 231–241.

The sarcoglycan complex in striated and vascular smooth muscle
Wheeler, M. T., Allikian, M. J., Heydemann, A., & McNally, E. M. (2002). The sarcoglycan complex in striated and vascular smooth muscle. Presented at the Cold Spring Harbor Symposium on Quantitative Biology, COLD SPRING HARBOR,NY: COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT.

Sarcoglycans in vascular smooth and striated muscle
Wheeler, M. T., & McNally, E. M. (2003). Sarcoglycans in vascular smooth and striated muscle. TRENDS IN CARDIOVASCULAR MEDICINE, 13(6), 238–243.

Functional nitric oxide synthase mislocalization in cardiomyopathy
Heydemann, A., Huber, J. M., Kakkar, R., Wheeler, M. T., & McNally, E. M. (2004). Functional nitric oxide synthase mislocalization in cardiomyopathy. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 36(2), 213–223.

Secondary coronary artery vasospasm promotes cardiomyopathy progression
Wheeler, M. T., Korcarz, C. E., Collins, K. A., Lapidos, K. A., Hack, A. A., Lyons, M. R., … McNally, E. M. (2004). Secondary coronary artery vasospasm promotes cardiomyopathy progression. AMERICAN JOURNAL OF PATHOLOGY, 164(3), 1063–1071.

Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
Wheeler, M. T., Allikian, M. J., Heydemann, A., Hadhazy, M., Zarnegar, S., & McNally, E. M. (2004). Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. JOURNAL OF CLINICAL INVESTIGATION, 113(5), 668–675.

The interaction of coronary tone and cardiac fibrosis.
Wheeler, M. T., & McNally, E. M. (2005). The interaction of coronary tone and cardiac fibrosis. Current Atherosclerosis Reports, 7(3), 219–226.

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.

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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).

Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy
Zhu, X. L., Wheeler, M. T., Hadhazy, M., Lam, M. Y. J., & McNally, E. M. (2002). Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy. FASEB JOURNAL, 16(7), 1096-?

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.

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.

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.

Outcomes after heart transplantation for amyloid cardiomyopathy in the modern era.
Davis, M. K., Kale, P., Liedtke, M., Schrier, S., Arai, S., Wheeler, M., … Witteles, R. M. (2015). Outcomes after heart transplantation for amyloid cardiomyopathy in the modern era. American Journal of Transplantation , 15(3), 650–58.

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.

Examining QRS amplitude criteria for electrocardiographic left ventricular hypertrophy in recommendations for screening criteria in athletes.
Singla, V., Jindal, A., Pargaonkar, V., Soofi, M., Wheeler, M., & Froelicher, V. (2015). Examining QRS amplitude criteria for electrocardiographic left ventricular hypertrophy in recommendations for screening criteria in athletes. Journal of Electrocardiology, 48(3), 368–72.

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.

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.

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.

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.

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.

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).

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.

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).

Simultaneous ramp right heart catheterization and echocardiography in a ReliantHeart left ventricular assist device.
Banerjee, D., Dutt, D., Duclos, S., Sallam, K., Wheeler, M., & Ha, R. (2017). Simultaneous ramp right heart catheterization and echocardiography in a ReliantHeart left ventricular assist device. World Journal of Cardiology, 9(1), 55–59.

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.).

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.

The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses
Boone, D. L., Turer, E. E., Lee, E. G., Ahmad, R. C., Wheeler, M. T., Tsui, C., … Ma, A. (2004). The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. NATURE IMMUNOLOGY, 5(10), 1052–1060.

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.

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).

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 .

Functional Cardiac Recovery and Hematologic Response to Chemotherapy in Patients With Light-Chain Amyloidosis (from the Stanford University Amyloidosis Registry).
Tuzovic, M., Kobayashi, Y., Wheeler, M., Barrett, C., Liedtke, M., Lafayette, R., … Witteles, R. (2017). Functional Cardiac Recovery and Hematologic Response to Chemotherapy in Patients With Light-Chain Amyloidosis (from the Stanford University Amyloidosis Registry). The American Journal of Cardiology, 120(8), 1381–86.

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.

Autoantibody profiling on a plasmonic nano-gold chip for the early detection of hypertensive heart disease.
Li, X., Kuznetsova, T., Cauwenberghs, N., Wheeler, M., Maecker, H., Wu, J. C., … Dai, H. (2017). Autoantibody profiling on a plasmonic nano-gold chip for the early detection of hypertensive heart disease. Proceedings of the National Academy of Sciences of the United States of America, 114(27), 7089–94.

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.

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).

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.

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.

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.

Electrocardiographic left atrial abnormalities predict cardiovascular mortality
Ha, L. D., Grober, A. F., Hock, J., Wheeler, M., Elbadawi, A., Biniwale, N., … Froelicher, V. (2018). Electrocardiographic left atrial abnormalities predict cardiovascular mortality. JOURNAL OF ELECTROCARDIOLOGY, 51(4), 652–57.

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.
Maurer, M. S., Schwartz, J. H., Gundapaneni, B., Elliott, P. M., Merlini, G., Waddington-Cruz, M., … Rapezzi, C. (2018). Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. The New England Journal of Medicine.

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.

Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations.
Subas, T., Luiten, R., Hanson-Kahn, A., Wheeler, M., & Caleshu, C. (2018). Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations. Journal of Genetic Counseling.

BEST IN PHYSICS (THERAPY) - Stereotactic Radiotherapy for Renal Sympathetic Ablation for the Treatment of Refractory Hypertension
Maxim, P., Wheeler, M., Maguire, P., & Loo, B. (2014). BEST IN PHYSICS (THERAPY) - Stereotactic Radiotherapy for Renal Sympathetic Ablation for the Treatment of Refractory Hypertension. MEDICAL PHYSICS, 41(6), 503–4.

Exercise for Patients With Hypertrophic Cardiomyopathy Reply
Saberi, S., Wheeler, M., & Day, S. M. (2017). Exercise for Patients With Hypertrophic Cardiomyopathy Reply. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 318(5), 481–82.

Repeats and Survival in Myotonic Dystrophy Type 1
Wheeler, M. T. (2017). Repeats and Survival in Myotonic Dystrophy Type 1. CIRCULATION-CARDIOVASCULAR GENETICS, 10(3).

Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy
Luiten, R. C., Ormond, K., Post, L., Asif, I. M., Wheeler, M. T., & Caleshu, C. (2016). Exercise restrictions trigger psychological difficulty in active and athletic adults with hypertrophic cardiomyopathy. OPEN HEART, 3(2).

Letter by Wheeler et al Regarding Article, "Recognition and Significance of Pathological T-Wave Inversions in Athletes"
Wheeler, M. T., Adelfattah, R., & Froelicher, V. F. (2015). Letter by Wheeler et al Regarding Article, "Recognition and Significance of Pathological T-Wave Inversions in Athletes". CIRCULATION, 132(14), E180.

Extremely elevated lipoprotein(a), combined hyperlipidemia, and premature atherosclerosis in a Chinese family
deGoma, E. M., Wheeler, M. T., Marcovina, S. M., & Ashley, E. A. (2010). Extremely elevated lipoprotein(a), combined hyperlipidemia, and premature atherosclerosis in a Chinese family. JOURNAL OF CLINICAL LIPIDOLOGY, 4(6), 543–47.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Kohler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O., Danis, D., Gourdine, J.-P., … Robinson, P. N. (2018). Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
Deisseroth, C. A., Birgmeier, J., Bodle, E. E., Kohler, J. N., Matalon, D. R., Nazarenko, Y., … Bejerano, G. (2018). ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

The Incremental Value of Right Ventricular Size and Strain in the Risk Assessment of Right Heart Failure Post - Left Ventricular Assist Device Implantation.
Aymami, M., Amsallem, M., Adams, J., Sallam, K., Moneghetti, K., Wheeler, M., … Banerjee, D. (2018). The Incremental Value of Right Ventricular Size and Strain in the Risk Assessment of Right Heart Failure Post - Left Ventricular Assist Device Implantation. Journal of Cardiac Failure, 24(12), 823–32.

Characteristics of undiagnosed diseases network applicants: implications for referring providers.
Walley, N. M., Pena, L. D., Hooper, S. R., Cope, H., Jiang, Y.-H. H., McConkie-Rosell, A., … Shashi, V. (2018). Characteristics of undiagnosed diseases network applicants: implications for referring providers. BMC Health Services Research, 18(1), 652.

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Shashi, V., Schoch, K., Spillmann, R., Cope, H., Tan, Q. K.-G., Walley, N., … Goldstein, D. B. (2018). A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena, L. D., Jiang, Y.-H. H., Schoch, K., Spillmann, R. C., Walley, N., Stong, N., … Shashi, V. (2018). Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 20(4), 464–69.

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Wang, J., Al-Ouran, R., Hu, Y., Kim, S.-Y. Y., Wan, Y.-W. W., Wangler, M. F., … Bellen, H. J. (2017). MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. American Journal of Human Genetics, 100(6), 843–853.

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao, H.-T. T., Davids, M., Burke, E., Pappas, J. G., Rosenfeld, J. A., McCarty, A. J., … Malicdan, M. C. (2017). A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American Journal of Human Genetics, 100(1), 128–137.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi, V., Pena, L. D., Kim, K., Burton, B., Hempel, M., Schoch, K., … Kortüm, F. (2016). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. American Journal of Human Genetics, 99(4), 991–999.

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.

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.

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.

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.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage, L. C., Reynolds, J. J., Baratang, N. V., Phillips, J. B., Wegner, J., McFarquhar, A., … Lee, B. (2019). Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. American Journal of Human Genetics, 104(3), 422–438.

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.

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).

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.

Repeats and Survival in Myotonic Dystrophy Type 1.
Wheeler, M. T. (2017). Repeats and Survival in Myotonic Dystrophy Type 1. Circulation. Cardiovascular Genetics, 10(3).

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.

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.

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy
Maurer, M. S., Schwartz, J. H., Gundapaneni, B., Elliott, P. M., Merlini, G., Waddington-Cruz, M., … Rapezzi, C. (2018). Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. NEW ENGLAND JOURNAL OF MEDICINE, 379(11), 1007–16.

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).

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.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Koehler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., … Robinson, P. N. (2019). Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. NUCLEIC ACIDS RESEARCH, 47(D1), D1018–D1027.

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.

The Incremental Value of Right Ventricular Size and Strain in the Risk Assessment of Right Heart Failure Post - Left Ventricular Assist Device Implantation
Aymami, M., Amsallem, M., Adams, J., Sallam, K., Moneghetti, K., Wheeler, M., … Banerjee, D. (2018). The Incremental Value of Right Ventricular Size and Strain in the Risk Assessment of Right Heart Failure Post - Left Ventricular Assist Device Implantation. JOURNAL OF CARDIAC FAILURE, 24(12), 823–32.

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.

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.
Newman, J. H., Shaver, A., Sheehan, J. H., Mallal, S., Stone, J. H., Pillai, S., … Phillips, J. A. (2019). IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. Molecular Genetics & Genomic Medicine, e686.

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.

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.

Improving risk stratification in heart failure with preserved ejection fraction by combining two validated risk scores.
Boralkar, K. A., Kobayashi, Y., Moneghetti, K. J., Pargaonkar, V. S., Tuzovic, M., Krishnan, G., … Haddad, F. (2019). Improving risk stratification in heart failure with preserved ejection fraction by combining two validated risk scores. Open Heart, 6(1), e000961.

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.

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Deisseroth, C. A., Birgmeier, J., Bodle, E. E., Kohler, J. N., Matalon, D. R., Nazarenko, Y., … Bejerano, G. (2019). ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. GENETICS IN MEDICINE, 21(7), 1585–93.

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.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca, O., Andrews, J. C., Lee, P.-T., Patel, C., Braddock, S. R., Slavotinek, A. M., … Malicdan, M. C. (2019). De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics.

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Bhatia, A., Mobley, B. C., Cogan, J., Koziura, M. E., Brokamp, E., Phillips, J., … Hamid, R. (2019). Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clinical Imaging, 58, 108–113.

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Nicoli, E.-R. R., Weston, M. R., Hackbarth, M., Becerril, A., Larson, A., Zein, W. M., … Malicdan, M. C. (2019). Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. American Journal of Human Genetics, 104(6), 1127–1138.

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.

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.

Large-Scale Assessment of a Smartwatch to Identify Atrial Fibrillation.
Perez, M. V., Mahaffey, K. W., Hedlin, H., Rumsfeld, J. S., Garcia, A., Ferris, T., … Turakhia, M. P. (2019). Large-Scale Assessment of a Smartwatch to Identify Atrial Fibrillation. The New England Journal of Medicine, 381(20), 1909–17.

Comparison of the Stanford ECG Left Atrial Criteria With the International ECG Criteria for Sports Screening.
Hock, J., Wheeler, M., Singh, T., Ha, L. D., Hadley, D., & Froelicher, V. (2019). Comparison of the Stanford ECG Left Atrial Criteria With the International ECG Criteria for Sports Screening. Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine.

VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., … Worthey, E. A. (2019). VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics, 20(1), 496.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., … Srour, M. (2019). De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics, 105(4), 854–868.

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling.
Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., … Jolly, L. A. (2019). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ß Signaling. Biological Psychiatry.

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.

Baseline Characteristics of the VANISH Cohort.
Axelsson Raja, A., Shi, L., Day, S. M., Russell, M., Zahka, K., Lever, H., … Ho, C. Y. (2019). Baseline Characteristics of the VANISH Cohort. Circulation. Heart Failure, 12(12), e006231.

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.

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.

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.

Multimodality Imaging for Risk Assessment of Inherited Cardiomyopathies
O'Sullivan, J. W., Rhee, J., Hsu, D., Wheeler, M. T., & Nieman, K. (2020). Multimodality Imaging for Risk Assessment of Inherited Cardiomyopathies. CURRENT CARDIOVASCULAR RISK REPORTS, 14(5).

Outcomes in Patients With Cardiac Amyloidosis Undergoing Heart Transplantation.
Barrett, C. D., Alexander, K. M., Zhao, H., Haddad, F., Cheng, P., Liao, R., … Witteles, R. M. (2020). Outcomes in Patients With Cardiac Amyloidosis Undergoing Heart Transplantation. JACC. Heart Failure.

An assessment of the role of vinculin (VCL) loss of function variants in inherited cardiomyopathy.
Hawley, M. H., Almontashiri, N., Biesecker, L. G., Berger, N., Chung, W. K., Garcia, J., … Funke, B. (2020). An assessment of the role of vinculin (VCL) loss of function variants in inherited cardiomyopathy. Human Mutation.

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.

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial.
Olivotto, I., Oreziak, A., Barriales-Villa, R., Abraham, T. P., Masri, A., Garcia-Pavia, P., … Jacoby, D. (2020). Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet (London, England).

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.

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.

Cardiopulmonary Differences Between Normal And Overweight Diabetics
Christle, J. W., Kobayashi, Y., Moneghetti, K., Wheeler, M., Myers, J., Palaniappan, L., & Haddad, F. (2020). Cardiopulmonary Differences Between Normal And Overweight Diabetics. MEDICINE AND SCIENCE IN SPORTS AND EXERCISE. LIPPINCOTT WILLIAMS & WILKINS.

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Melo, U. S., Bonner, D., Kent Lloyd, K. C., Moshiri, A., Willis, B., Lanoue, L., … Byers, H. M. (2021). Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

"It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.
Halley, M. C., Stanley, T., Maturi, J., Goldenberg, A. J., Bernstein, J. A., Wheeler, M. T., & Tabor, H. K. (2021). "It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

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.

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics.
Bonder, M. J., Smail, C., Gloudemans, M. J., Fresard, L., Jakubosky, D., D'Antonio, M., … Stegle, O. (2021). Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nature Genetics.

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.

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.

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.

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.

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke, E. A., Sturgeon, M., Zastrow, D. B., Fernandez, L., Prybol, C., Marwaha, S., … Malicdan, M. C. (2021). Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. Journal of Neurogenetics, 1–10.

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).

Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations
Subas, T., Luiten, R., Hanson-Kahn, A., Wheeler, M., & Caleshu, C. (2019). Evolving Decisions: Perspectives of Active and Athletic Individuals with Inherited Heart Disease Who Exercise Against Recommendations. JOURNAL OF GENETIC COUNSELING, 28(1), 119–129.

"Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey.
Deuitch, N. T., Beckman, E., Halley, M. C., Young, J. L., Reuter, C. M., Kohler, J., … Tabor, H. K. (2021). "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey. Journal of Genetic Counseling.

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.

Findings From Cardiovascular Evaluation of National Collegiate Athletic Association Division I Collegiate Student-Athletes After Asymptomatic or Mildly Symptomatic SARS-CoV-2 Infection.
Hwang, C. E., Kussman, A., Christle, J. W., Froelicher, V., Wheeler, M. T., & Moneghetti, K. J. (2021). Findings From Cardiovascular Evaluation of National Collegiate Athletic Association Division I Collegiate Student-Athletes After Asymptomatic or Mildly Symptomatic SARS-CoV-2 Infection. Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine.

Mapping the human genetic architecture of COVID-19.
Mapping the human genetic architecture of COVID-19. (2021). Nature.

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer, D., Kim, H. J., Guo, L., O'Donovan, K., Mademan, I., Deconinck, T., … Baets, J. (2021). Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. JCI Insight, 6(14).

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations.
Cao, X., Jahng, J. W., Lee, C., Zha, Y., Wheeler, M. T., Sallam, K., & Wu, J. C. (2021). Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations. Stem Cell Research, 55, 102455.

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.

The genetics of human performance.
Kim, D. S., Wheeler, M. T., & Ashley, E. A. (2021). The genetics of human performance. Nature Reviews. Genetics.

Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial.
Ho, C. Y., Day, S. M., Axelsson, A., Russell, M. W., Zahka, K., Lever, H. M., … Braunwald, E. (2021). Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial. Nature Medicine.

Arrhythmias Other Than Atrial Fibrillation in Those With an Irregular Pulse Detected With a Smartwatch: Findings From the Apple Heart Study.
Perino, A. C., Gummidipundi, S. E., Lee, J., Hedlin, H., Garcia, A., Ferris, T., … Perez, M. V. (2021). Arrhythmias Other Than Atrial Fibrillation in Those With an Irregular Pulse Detected With a Smartwatch: Findings From the Apple Heart Study. Circulation. Arrhythmia and Electrophysiology, CIRCEP121010063.

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.

Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick, J., Leahy, P., Cowan, T., Ruzhnikov, M. R., Gates, R., Fernandez, L., … Lee, C. (2021). Variable clinical severity in TANGO2 deficiency: Case series and literature review. American Journal of Medical Genetics. Part A.

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations.
Zhao, S. R., Shen, M., Lee, C., Zha, Y., Guevara, J. V., Wheeler, M. T., & Wu, J. C. (2021). Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations. Stem Cell Research, 57, 102597.

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.

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Halley, M. C., Young, J. L., Fernandez, L., Kohler, J. N., Bernstein, J. A., Wheeler, M. T., & Tabor, H. K. (1800). Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. American Journal of Medical Genetics. Part A.

Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy.
Huggins, G. S., Kinnamon, D. D., Haas, G. J., Jordan, E., Hofmeyer, M., Kransdorf, E., … Hershberger, R. E. (1800). Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy. JAMA, 327(5), 454–463.

TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION.
Montgomery, S. B., Bernstein, J. A., & Wheeler, M. T. (2022). TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION. Cold Spring Harbor Molecular Case Studies.

The Response to Cardiac Resynchronization Therapy in LMNA cardiomyopathy.
Sidhu, K., Castrini, A. I., Parikh, V., Reza, N., Owens, A., Tremblay-Gravel, M., … Lakdawala, N. K. (2022). The Response to Cardiac Resynchronization Therapy in LMNA cardiomyopathy. European Journal of Heart Failure.

2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.
Groh, W. J., Bhakta, D., Tomaselli, G. F., Aleong, R. G., Teixeira, R. A., Amato, A., … Zeppenfeld, K. (2022). 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm.

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.

Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C.
Vera, C. D., Manhas, A., Shenoy, S. P., Wheeler, M. T., Sallam, K., & Wu, J. C. (2022). Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C. Stem Cell Research, 63, 102834.

Guide to the female student athlete ECG: A comprehensive study of 3466 young, racially diverse athletes.
Harris, C. S., Froelicher, V. F., & Wheeler, M. T. (2022). Guide to the female student athlete ECG: A comprehensive study of 3466 young, racially diverse athletes. The American Journal of Medicine.

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.

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease.
Young, J. L., Halley, M. C., Anguiano, B., Fernandez, L., Bernstein, J. A., Wheeler, M. T., & Tabor, H. K. (2022). Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease. Frontiers in Genetics, 13, 949422.

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.

Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations.
Zhang, T. T., Zhao, S. R., Alamana, C., Shen, M., Parikh, V., Wheeler, M. T., & Wu, J. C. (2022). Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations. Stem Cell Research, 65, 102941.

Premature ventricular contractions (PVCs) in young athletes.
Gomez, S. E., Hwang, C. E., Kim, D. S., Froelicher, V. F., Wheeler, M. T., & Perez, M. V. (2022). Premature ventricular contractions (PVCs) in young athletes. Progress in Cardiovascular Diseases.

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.

Effect of beta-blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy.
Wheeler, M. T., Jacoby, D., Elliott, P. M., Saberi, S., Hegde, S. M., Lakdawala, N. K., … Olivotto, I. (2022). Effect of beta-blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy. European Journal of Heart Failure.

A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.
Spillmann, R. C., Tan, Q. K.-G., Reuter, C., Schoch, K., Kohler, J., Bonner, D., … Shashi, V. (2022). A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network. Genetics in Medicine : Official Journal of the American College of Medical Genetics.

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.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger, P. E., Kortum, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., … Kutsche, K. (2020). Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. BRAIN, 143(8), 2437–2453.

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Ferdinandusse, S., McWalter, K., te Brinke, H., Ijlst, L., Mooijer, P. M., Ruiter, J. P. N., … Vaz, F. M. (2021). An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. GENETICS IN MEDICINE, 23(4), 740–750.

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
Meissner, L. E., Macnamara, E. F., D'Souza, P., Yang, J., Vezina, G., Ferreira, C. R., … Adams, D. R. (2020). DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. MOLECULAR GENETICS & GENOMIC MEDICINE, 8(12), e1544.

Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice
Studwell, C. M., Kelley, E. G., Sinsheimer, J. S., Palmer, C. G. S., & LeBlanc, K. (2021). Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. JOURNAL OF GENETIC COUNSELING, 30(2), 439–447.

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study
Kinnamon, D. D., Morales, A., Bowen, D. J., Burke, W., & Hershberger, R. E. (2017). Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. CIRCULATION-CARDIOVASCULAR GENETICS, 10(6).

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Wangler, M. F., Yamamoto, S., Chao, H.-T., Posey, J. E., Westerfield, M., Postlethwait, J., … Bellen, H. J. (2017). Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. GENETICS, 207(1), 9–27.

Data Sharing in the Undiagnosed Diseases Network
Brownstein, C. A., Holm, I. A., Ramoni, R., & Goldstein, D. B. (2015). Data Sharing in the Undiagnosed Diseases Network. HUMAN MUTATION, 36(10), 985–988.

Addition of the Electrocardiogram to the Preparticipation Examination of College Athletes (vol 20, pg 98, 2010)
Le, V.-V., Wheeler, M. T., & Mandic, S. (2010). Addition of the Electrocardiogram to the Preparticipation Examination of College Athletes (vol 20, pg 98, 2010). CLINICAL JOURNAL OF SPORT MEDICINE, 20(4), 332.

Regulation of IIB MyHC expression by MyoD
Wheeler, M., & Swoap, S. (1998). Regulation of IIB MyHC expression by MyoD. FASEB JOURNAL. FEDERATION AMER SOC EXP BIOL.

Serial 7-Day Electrocardiogram PatchScreening for AF inHigh-Risk Older Women by the CHARGE-AF Score.
Lin, J. Y., Larson, J., Schoenberg, J., Sepulveda, A., Tinker, L., Wheeler, M., … Perez, M. V. (2022). Serial 7-Day Electrocardiogram PatchScreening for AF inHigh-Risk Older Women by the CHARGE-AF Score. JACC. Clinical Electrophysiology, 8(12), 1523–1534.

Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy.
Tremblay-Gravel, M., Ichimura, K., Picard, K., Kawano, Y., Dries, A. M., Haddad, F., … Parikh, V. N. (2022). Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy. Circulation. Genomic and Precision Medicine, e003480.

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.

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.

Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption: A Secondary Analysis of the EXPLORER-HCM Randomized Trial.
Wheeler, M. T., Olivotto, I., Elliott, P. M., Saberi, S., Owens, A. T., Maurer, M. S., … Myers, J. (2023). Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption: A Secondary Analysis of the EXPLORER-HCM Randomized Trial. JAMA 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.

Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial.
Kinnamon, D. D., Jordan, E., Haas, G. J., Hofmeyer, M., Kransdorf, E., Ewald, G. A., … Hershberger, R. E. (2023). Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial. Circulation.

Transforming Growth Factor-ß Analysis of the VANISH Trial Cohort.
Kim, Y., Mastali, M., Van Eyk, J. E., Orav, E. J., Vissing, C. R., Day, S. M., … Ho, C. Y. (2023). Transforming Growth Factor-ß Analysis of the VANISH Trial Cohort. Circulation. Heart Failure, e010314.

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.

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Weinstock, J. S., Gopakumar, J., Burugula, B. B., Uddin, M. M., Jahn, N., Belk, J. A., … Jaiswal, S. (2023). Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature.

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Weinstock, J. S., Laurie, C. A., Broome, J. G., Taylor, K. D., Guo, X., Shuldiner, A. R., … Bick, A. G. (2023). The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Science Advances, 9(17), eabm4945.

The Reply.
Harris, C. S., Froelicher, V. F., & Wheeler, M. T. (2023). The Reply. The American Journal of Medicine, 136(5), e106.

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.

Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives.
Ni, H., Jordan, E., Kinnamon, D. D., Cao, J., Haas, G. J., Hofmeyer, M., … Hershberger, R. E. (2023). Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives. Journal of the American College of Cardiology, 81(21), 2059–2071.

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.

Genetic Signature of Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study
Hofmeyer, M., Haas, G., Kransdorf, E., Ewald, G., Morris, A., Owens, A., … Hershberger, R. E. (2023). Genetic Signature of Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. JOURNAL OF HEART AND LUNG TRANSPLANTATION. ELSEVIER SCIENCE INC.

Assessment of Oxygen Pulse in Hypertrophic Cardiomyopathy-Reply.
Wheeler, M. T., Chen, Y.-M. M., & Myers, J. (2023). Assessment of Oxygen Pulse in Hypertrophic Cardiomyopathy-Reply. JAMA Cardiology.

Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.
Jordan, E., Kinnamon, D. D., Haas, G. J., Hofmeyer, M., Kransdorf, E., Ewald, G. A., … Hershberger, R. E. (2023). Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry. JAMA, 330(5), 432–441.

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik, M. H., Reuter, C. M., Marwaha, S., Mahmoud, M., Duyzend, M. H., Barseghyan, H., … Miller, D. E. (2023). Beyond the exome: What's next in diagnostic testing for Mendelian conditions. American Journal of Human Genetics, 110(8), 1229–1248.

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.

Beyond the exome: what's next in diagnostic testing for Mendelian conditions.
Wojcik, M. H., Reuter, C. M., Marwaha, S., Mahmoud, M., Duyzend, M. H., Barseghyan, H., … Miller, D. E. (2023). Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv.

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study.
Hofmeyer, M., Haas, G. J., Jordan, E., Cao, J., Kransdorf, E., Ewald, G. A., … Hershberger, R. E. (2023). Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. Circulation.