Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Disease Model of GATA4 Mutation Reveals Transcription Factor Cooperativity in Human Cardiogenesis

(2016) Yen-Sin Ang et al.   CELL

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Mango: a bias-correcting ChIA-PET analysis pipeline

(2015) Douglas H. Phanstiel et al.   BIOINFORMATICS

c.620C>T mutation in GATA4 is associated with congenital heart disease in South India

(2015) Saidulu Mattapally et al.   BMC Medical Genetics

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Conserved Transcriptional Regulatory Mechanisms in Aortic Valve Development and Disease

(2014) Elaine E. Wirrig et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

minimac2: faster genotype imputation

(2014) Christian Fuchsberger et al.   BIOINFORMATICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Rare mutations associating with serum creatinine and chronic kidney disease

(2014) Gardar Sveinbjornsson et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

(2014) Elizabeth M. Bonachea et al.   PEDIATRIC RESEARCH

Mutation spectrum of GATA4 associated with congenital atrial septal defects

(2013) Yi-Qing Yang et al.   Archives of Medical Science

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

(2013) Ilenia Foffa et al.   BMC Medical Genetics

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons

(2013) Jiao Jiao et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

(2013) H. J. Cordell et al.   HUMAN MOLECULAR GENETICS

GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot

(2013) Yi-Qing Yang et al.   HUMAN MUTATION

Difference in hemodynamic and wall stress of ascending thoracic aortic aneurysms with bicuspid and tricuspid aortic valve

(2013) Salvatore Pasta et al.   JOURNAL OF BIOMECHANICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Wellington: a novel method for the accurate identification of digital genomic footprints from DNase-seq data

(2013) Jason Piper et al.   NUCLEIC ACIDS RESEARCH

Efficient Generation of Integration-Free iPS Cells from Human Adult Peripheral Blood Using BCL-XL Together with Yamanaka Factors

(2013) Rui-Jun Su et al.   PLoS One

Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease

(2013) Erli Wang et al.   PLoS One

Promoting Reprogramming by FGF2 Reveals that the Extracellular Matrix Is a Barrier for Reprogramming Fibroblasts to Pluripotency

(2013) Jiao Jiao et al.   STEM CELLS

Partitioning the heart: mechanisms of cardiac septation and valve development

(2012) C.-J. Lin et al.   DEVELOPMENT

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease

(2012) Ratnasari Padang et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Incidence of Aortic Complications in Patients With Bicuspid Aortic Valves

(2011) Hector I. Michelena et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Loss of Gata5 in mice leads to bicuspid aortic valve

(2011) Brigitte Laforest et al.   JOURNAL OF CLINICAL INVESTIGATION

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

(2011) D. Lourenco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bicuspid Aortic Valve Disease

(2010) Samuel C. Siu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Application of Gene Network Analysis Techniques Identifies AXIN1/PDIA2 and Endoglin Haplotypes Associated with Bicuspid Aortic Valve

(2010) Eric C. Wooten et al.   PLoS One

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

(2009) Prateek Kumar et al.   Nature Protocols

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Natural History of Asymptomatic Patients With Normally Functioning or Minimally Dysfunctional Bicuspid Aortic Valve in the Community

(2008) Hector I. Michelena et al.   CIRCULATION

GATA4 mutations in 486 Chinese patients with congenital heart disease

(2008) Weimin Zhang et al.   European Journal of Medical Genetics

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

(2008) K. L. McBride et al.   HUMAN MOLECULAR GENETICS