Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

(2019) Raquel Yotti et al.   Annual Review of Genomics and Human Genetics

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Δ25bpIntronic Deletion in South Asian Descendants

(2018) Shiv Kumar Viswanathan et al.   JAMA Cardiology

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction

(2016) SURENDRA KUMAR et al.   JOURNAL OF GENETICS

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation

(2013) Diederik W. D. Kuster et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India

(2011) Murali D. Bashyam et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Association of 25 bp Deletion in MYBPC3 Gene with Left Ventricle Dysfunction in Coronary Artery Disease Patients

(2011) Anshika Srivastava et al.   PLoS One

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

(2009) Perundurai S Dhandapany et al.   NATURE GENETICS