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

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

(2015) Whitney Wooderchak-Donahue et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic advances in sarcomeric cardiomyopathies: state of the art

(2015) C. Y. Ho et al.   CARDIOVASCULAR RESEARCH

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

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

(2015) Tychele N. Turner et al.   HUMAN MOLECULAR GENETICS

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

(2014) J. R. Golbus et al.   Circulation-Cardiovascular Genetics

Myotonic dystrophy: time for evidence-based therapy

(2014) Perry Elliott   EUROPEAN HEART JOURNAL

Atlas of the clinical genetics of human dilated cardiomyopathy

(2014) Jan Haas et al.   EUROPEAN HEART JOURNAL

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

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

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

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

(2014) Luis R Lopes et al.   HEART

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

(2014) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

Genetic mutations and mechanisms in dilated cardiomyopathy

(2013) Elizabeth M. McNally et al.   JOURNAL OF CLINICAL INVESTIGATION

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

(2013) Connie R Bezzina et al.   NATURE GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

(2011) Steven Marston et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy

(2011) Ray E. Hershberger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Inherited Cardiomyopathies

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

Statistical method on nonrandom clustering with application to somatic mutations in cancer

(2010) Jingjing Ye et al.   BMC BIOINFORMATICS

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy

(2009) Takuro Arimura et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

(2008) Ray E. Hershberger et al.   CTS-Clinical and Translational Science

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY