Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

(2014) N. Makita et al.   Circulation-Cardiovascular Genetics

The role of acute hyperinsulinemia in the development of cardiac arrhythmias

(2013) László Drimba et al.   NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

A practical method to detect SNVs and indels from whole genome and exome sequencing data

(2013) Daichi Shigemizu et al.   Scientific Reports

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Enhanced binding of calmodulin to the ryanodine receptor corrects contractile dysfunction in failing hearts

(2012) Akihiro Hino et al.   CARDIOVASCULAR RESEARCH

Abnormal Termination of Ca 2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

The sirtuin SIRT6 blocks IGF-Akt signaling and development of cardiac hypertrophy by targeting c-Jun

(2012) Nagalingam R Sundaresan et al.   NATURE MEDICINE

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome

(2011) Peter J. Schwartz et al.   CIRCULATION

A Novel Ryanodine Receptor Mutation Linked to Sudden Death Increases Sensitivity to Cytosolic Calcium

(2011) Albano C. Meli et al.   CIRCULATION RESEARCH

Functional Coupling of Rab3-interacting Molecule 1 (RIM1) and L-type Ca2+Channels in Insulin Release

(2011) María A. Gandini et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

(2011) Ignacio Varela et al.   NATURE

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

(2011) N. Agrawal et al.   SCIENCE

Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia

(2010) Dawei Jiang et al.   Channels

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study

(2010) Hideki Itoh et al.   HEART RHYTHM

A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS

(2010) Silke Kauferstein et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The 1000 Genomes Project: new opportunities for research and social challenges

(2010) Marc Via et al.   Genome Medicine

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

Serum glucose and insulin are associated with QTc and RR intervals in nondiabetic elderly

(2009) Charlotte van Noord et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome

(2009) Yukiko Nishio et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

UBXD7 Binds Multiple Ubiquitin Ligases and Implicates p97 in HIF1α Turnover

(2008) Gabriela Alexandru et al.   CELL

Slc2a5 (Glut5) Is Essential for the Absorption of Fructose in the Intestine and Generation of Fructose-induced Hypertension

(2008) Sharon Barone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The QT syndromes: long and short

(2008) Hiroshi Morita et al.   LANCET

Interpreting principal component analyses of spatial population genetic variation

(2008) John Novembre et al.   NATURE GENETICS