Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

(2015) Dace Ruklisa et al.   Genome Medicine

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

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

Genotype- and Phenotype-Guided Management of Congenital Long QT Syndrome

(2013) John R. Giudicessi et al.   CURRENT PROBLEMS IN CARDIOLOGY

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

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

Genetics of Cardiac Electrical Disease

(2012) Mark J. Perrin et al.   CANADIAN JOURNAL OF CARDIOLOGY

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

(2012) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Paralogous annotation of disease-causing variants in long QT syndrome genes

(2012) James S. Ware et al.   HUMAN MUTATION

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

(2012)   NATURE

Analysis of the interactions between the C-terminal cytoplasmic domains of KCNQ1 and KCNE1 channel subunits

(2010) Renjian Zheng et al.   BIOCHEMICAL JOURNAL

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Novel Mechanisms of Trafficking Defect Caused byKCNQ1Mutations Found in Long QT Syndrome

(2009) Akinori Sato et al.   JOURNAL OF BIOLOGICAL CHEMISTRY