Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20

(2016) Neil A. Hanchard et al.   HUMAN MOLECULAR GENETICS

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

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

(2016) Christoph Preuss et al.   PLoS Genetics

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

(2016) Andrew T Timberlake et al.   eLife

Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome

(2015) Angela M. Kelle et al.   AMERICAN JOURNAL OF CARDIOLOGY

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

(2015) Alexander H Li et al.   NATURE GENETICS

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Secondary findings and carrier test frequencies in a large multiethnic sample

(2015) Tomasz Gambin et al.   Genome Medicine

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

(2014) Saeed Al Turki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline

(2014) Jeffrey G Reid et al.   BMC BIOINFORMATICS

Genetic basis of congenital cardiovascular malformations

(2014) Seema R. Lalani et al.   European Journal of Medical Genetics

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2013) Samir Zaidi et al.   NATURE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

(2013) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

An integrative variant analysis suite for whole exome next-generation sequencing data

(2012) Danny Challis et al.   BMC BIOINFORMATICS

Cardiovascular findings in duplication 17p11.2 syndrome

(2012) John L. Jefferies et al.   GENETICS IN MEDICINE

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

(2012)   NATURE

Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

(2011) W. S. Kerstjens-Frederikse et al.   HEART

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Endothelial Jarid2/Jumonji Is Required for Normal Cardiac Development and Proper Notch1 Expression

(2011) Matthew R. Mysliwiec et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Birth Prevalence of Congenital Heart Disease Worldwide

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

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Jarid2 is among a set of genes differentially regulated by Nkx2.5 during outflow tract morphogenesis

(2010) Jeremy L. Barth et al.   DEVELOPMENTAL DYNAMICS

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

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

PLRG1 Is an Essential Regulator of Cell Proliferation and Apoptosis during Vertebrate Development and Tissue Homeostasis

(2009) A. Kleinridders et al.   MOLECULAR AND CELLULAR BIOLOGY

Transforming Growth Factor-β-stimulated Endocardial Cell Transformation Is Dependent on Par6c Regulation of RhoA

(2008) Todd A. Townsend et al.   JOURNAL OF BIOLOGICAL CHEMISTRY