Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect

Whole-genome sequencing of quartet families with autism spectrum disorder

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

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Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic tetralogy of fallot and double outlet right ventricle in a Chinese Han population

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The Cardiac Phenotype in Patients With a CHD7 Mutation

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

(2013) Samir Zaidi et al.   NATURE

Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

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Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

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Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

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Synergistic regulation of p53 by Mdm2 and Mdm4 is critical in cardiac endocardial cushion morphogenesis during heart development

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Factors Influencing Participation in a Population-based Biorepository for Childhood Heart Disease

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BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

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

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Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

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Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects

(2009) Kelly A. Smith et al.   CIRCULATION

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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

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Endothelial Expression of Bone Morphogenetic Protein Receptor Type 1a is Required for Atrioventricular Valve Formation

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