Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

(2020) Jesus Mates et al.   Forensic Science International-Genetics

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

(2018) Laura Yeates et al.   HEART RHYTHM

Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

(2017) Richard D. Bagnall et al.   GENETICS IN MEDICINE

Identification of MYLK3 mutations in familial dilated cardiomyopathy

(2017) Takashige Tobita et al.   Scientific Reports

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

(2016) Richard D. Bagnall et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

(2014) Richard D Bagnall et al.   BMC Medical Genetics

An Evaluation of Copy Number Variation Detection Tools from Whole-Exome Sequencing Data

(2014) Renjie Tan et al.   HUMAN MUTATION

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy

(2012) V. Chanavat et al.   European Journal of Medical Genetics

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

(2012) Enkhsaikhan Purevjav et al.   HUMAN MOLECULAR GENETICS

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Alu repeats increase local recombination rates

(2009) David J Witherspoon et al.   BMC GENOMICS

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

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

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

(2008) Carey-Anne Eddy et al.   HEART RHYTHM