New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular non‐compaction phenotype

(2019) Konstantinos Kolokotronis et al.   HUMAN MUTATION

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2018) Ray E. Hershberger et al.   GENETICS IN MEDICINE

Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy

(2018) Jaap I. van Waning et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Putative functional genes in idiopathic dilated cardiomyopathy

(2018) Nishanth Ulhas Nair et al.   Scientific Reports

Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy

(2018) Timothy Shin Heng Mak et al.   Scientific Reports

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

(2017) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Stk38 Modulates Rbm24 Protein Stability to Regulate Sarcomere Assembly in Cardiomyocytes

(2017) Jing Liu et al.   Scientific Reports

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

(2017) Allison L. Cirino et al.   Circulation-Cardiovascular Genetics

Identification of MYLK3 mutations in familial dilated cardiomyopathy

(2017) Takashige Tobita et al.   Scientific Reports

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

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

(2015) Montse Olivé et al.   HUMAN MOLECULAR GENETICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Inherited Cardiomyopathies

(2014) Jeffrey A. Towbin   CIRCULATION JOURNAL

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

(2013) Hana Hartmannova et al.   Circulation-Cardiovascular Genetics

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

(2013) Guillermo Luxán et al.   NATURE MEDICINE

RNA-binding protein RBM24 is required for sarcomere assembly and heart contractility

(2012) Kar Lai Poon et al.   CARDIOVASCULAR RESEARCH

Genetics of inherited cardiomyopathy

(2011) D. Jacoby et al.   EUROPEAN HEART JOURNAL

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Inherited Cardiomyopathies

(2011) Hugh Watkins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS