Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

(2018) Marta Unolt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Emerging role of the Jun N-terminal kinase interactome in human health

(2018) Xiao-Xi Guo et al.   CELL BIOLOGY INTERNATIONAL

Rbm24, a target of p53, is necessary for proper expression of p53 and heart development

(2018) Min Zhang et al.   CELL DEATH AND DIFFERENTIATION

The Congenital Heart Disease Genetic Network Study: Cohort description

(2018) Thanh T. Hoang et al.   PLoS One

MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB

(2018) Cynthia L. Hsu et al.   Nature Communications

Molecular genetics of 22q11.2 deletion syndrome

(2018) Bernice E. Morrow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart DefectsCLINICAL PERSPECTIVE

(2017) A. J. Agopian et al.   Circulation-Cardiovascular Genetics

Inpatient Hospitalization Costs Associated with Birth Defects Among Persons of All Ages — United States, 2013

(2017) Annelise C. Arth et al.   MMWR-MORBIDITY AND MORTALITY WEEKLY REPORT

Rare copy number variants in patients with congenital conotruncal heart defects

(2017) Hongbo M. Xie et al.   Birth Defects Research

Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease

(2016) Benjamin Kloesel et al.   ANESTHESIA AND ANALGESIA

Progress in methods for rare variant association

(2016) Stephanie A. Santorico et al.   BMC GENETICS

Congenital Heart Defects in the United StatesClinical Perspective

(2016) Suzanne M. Gilboa et al.   CIRCULATION

Chromosome condensation and decondensation during mitosis

(2016) Wolfram Antonin et al.   CURRENT OPINION IN CELL BIOLOGY

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

(2016) Alejandro Sifrim et al.   NATURE GENETICS

An opportunity to address the genetic causes of birth defects

(2016) Mustafa K. Khokha et al.   PEDIATRIC RESEARCH

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

(2016) Christopher C Y Mak et al.   npj Genomic Medicine

Muscleblind-like 1 is required for normal heart valve development in vivo

(2015) Ryan J. Coram et al.   BMC DEVELOPMENTAL BIOLOGY

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families

(2014) Shabnam Peyvandi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions

(2014) Peter S. White et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Genome-Wide Association Study of Maternal and Inherited Loci for Conotruncal Heart Defects

(2014) A. J. Agopian et al.   PLoS One

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Congenital Heart Disease Genetic Network Study

(2013) et al.   CIRCULATION RESEARCH

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

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

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

De novo mutations in histone-modifying genes in congenital heart disease

(2013) Samir Zaidi et al.   NATURE

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

(2013) Heather J Cordell et al.   NATURE GENETICS

Rare Variant Analysis for Family-Based Design

(2013) Gourab De et al.   PLoS One

MBNL1 and RBFOX2 cooperate to establish a splicing programme involved in pluripotent stem cell differentiation

(2013) Julian P. Venables et al.   Nature Communications

Loss of muscleblind-like 1 promotes invasive mesenchyme formation in endocardial cushions by stimulating autocrine TGFβ3

(2012) Kathryn E LeMasters et al.   BMC DEVELOPMENTAL BIOLOGY

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Myotonic Dystrophies and the Heart

(2011) Sunit-Preet Chaudhry et al.   Cardiology in Review

REVIGO Summarizes and Visualizes Long Lists of Gene Ontology Terms

(2011) Fran Supek et al.   PLoS One

Mortality Resulting From Congenital Heart Disease Among Children and Adults in the United States, 1999 to 2006

(2010) Suzanne M. Gilboa et al.   CIRCULATION

Conotruncal Cardiac Defects: A Clinical Imaging Perspective

(2010) Tiffanie R. Johnson   PEDIATRIC CARDIOLOGY

Recurrence of Congenital Heart Defects in Families

(2009) Nina Øyen et al.   CIRCULATION

Familial transposition of the great arteries caused by multiple mutations in laterality genes

(2009) A. De Luca et al.   HEART

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

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

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

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Smad4 in neural crest cells leads to mid-gestation death with pharyngeal arch, craniofacial and cardiac defects

(2008) Xuguang Nie et al.   DEVELOPMENTAL BIOLOGY

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

(2008) A. Kalsotra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA