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

Prepregnancy Diabetes and Offspring Risk of Congenital Heart DiseaseCLINICAL PERSPECTIVE

(2016) Nina Øyen et al.   CIRCULATION

KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation

(2016) Siang-Yun Ang et al.   DEVELOPMENT

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

(2016) Monkol Lek et al.   NATURE

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

(2016) Alejandro Sifrim et al.   NATURE GENETICS

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

(2016) Andrew T Timberlake et al.   eLife

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

Long-Term Outcomes in Children with Congenital Heart Disease: National Health Interview Survey

(2015) Hilda Razzaghi et al.   JOURNAL OF PEDIATRICS

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

RecessiveMYH6Mutations in Hypoplastic Left Heart With Reduced Ejection FractionCLINICAL PERSPECTIVE

(2015) Jeanne L. Theis et al.   Circulation-Cardiovascular Genetics

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Bayesian framework for de novo mutation calling in parents-offspring trios

(2014) Qiang Wei et al.   BIOINFORMATICS

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

Factors Associated with Neurodevelopment for Children with Single Ventricle Lesions

(2014) Caren S. Goldberg et al.   JOURNAL OF PEDIATRICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Ancestry estimation and control of population stratification for sequence-based association studies

(2014) Chaolong Wang et al.   NATURE GENETICS

Insights into the Genetic Structure of Congenital Heart Disease from Human and Murine Studies on Monogenic Disorders

(2014) T. Prendiville et al.   Cold Spring Harbor Perspectives in Medicine

The Congenital Heart Disease Genetic Network Study

(2013) et al.   CIRCULATION RESEARCH

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

(2013) Hao Hu et al.   GENETIC EPIDEMIOLOGY

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

(2013) Samir Zaidi et al.   NATURE

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

(2013) Mathieu Lemaire et al.   NATURE GENETICS

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

(2012) Rachel Soemedi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Consanguinity and the risk of congenital heart disease

(2012) Joseph T.C. Shieh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Temporal Chromatin Signature in Human Embryonic Stem Cells Identifies Regulators of Cardiac Development

(2012) Sharon L. Paige et al.   CELL

Dynamic and Coordinated Epigenetic Regulation of Developmental Transitions in the Cardiac Lineage

(2012) Joseph A. Wamstad et al.   CELL

Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management

(2012) Bradley S. Marino et al.   CIRCULATION

Nonsynonymous variants in theSMAD6gene predispose to congenital cardiovascular malformation

(2012) Huay L. Tan et al.   HUMAN MUTATION

A probabilistic disease-gene finder for personal genomes

(2011) M. Yandell et al.   GENOME RESEARCH

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)

(2010) E. Kaasinen et al.   HUMAN MOLECULAR GENETICS

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Comparison of Shunt Types in the Norwood Procedure for Single-Ventricle Lesions

(2010) Richard G. Ohye et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

(2010) S. M. Bray et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

Recurrence of Congenital Heart Defects in Families

(2009) Nina Øyen et al.   CIRCULATION