De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

(2015) Tingwei Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

History of Our Understanding of the Causes of Congenital Heart Disease

(2015) Bruce D. Gelb   Circulation-Cardiovascular Genetics

The maternal-age-associated risk of congenital heart disease is modifiable

(2015) Claire E. Schulkey et al.   NATURE

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

(2015) You Li et al.   NATURE

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

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

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

(2015) Frederick E. Dewey et al.   PLoS Genetics

History of Our Understanding of the Causes of Congenital Heart Disease

(2015) Bruce D. Gelb   Circulation-Cardiovascular Genetics

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

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

Loss of β-Catenin Promotes Chondrogenic Differentiation of Aortic Valve Interstitial Cells

(2014) Ming Fang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genetic regulation of vertebrate eye development

(2014) J.L. Zagozewski et al.   CLINICAL GENETICS

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

(2014) Laura E. Mitchell et al.   HUMAN MOLECULAR GENETICS

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complexes

(2014) Mark D M Leiserson et al.   NATURE GENETICS

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

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

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

(2013) Zongxiao He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects

(2013) Kazutoyo Osoegawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Congenital Heart Disease

(2013) Akl C. Fahed et al.   CIRCULATION RESEARCH

Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory

(2013) Krystien V. Lieve et al.   Genetic Testing and Molecular Biomarkers

PROX1 promotes hepatocellular carcinoma metastasis by way of up-regulating hypoxia-inducible factor 1α expression and protein stability

(2013) Yanfeng Liu et al.   HEPATOLOGY

Congenital Heart Defects in Patients with Deletions Upstream ofSOX9

(2013) Marta Sanchez-Castro et al.   HUMAN MUTATION

Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro

(2013) Daniel M. DeLaughter et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Endothelial deletion of ADAM17 in mice results in defective remodeling of the semilunar valves and cardiac dysfunction in adults

(2013) Carole L. Wilson et al.   MECHANISMS OF DEVELOPMENT

Mutational heterogeneity in cancer and the search for new cancer-associated genes

(2013) Michael S. Lawrence et al.   NATURE

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality

(2013) Marko T. Boskovski et al.   NATURE

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

(2013) Samir Zaidi et al.   NATURE

A Flexible Approach for the Analysis of Rare Variants Allowing for a Mixture of Effects on Binary or Quantitative Traits

(2013) Geraldine M. Clarke et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

(2012) Rebecca L. Hood et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) James R. Priest et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex Trait Analysis of Ventricular Septal Defects Caused by Nkx2-5 Mutation

(2012) Julia B. Winston et al.   Circulation-Cardiovascular Genetics

The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion

(2012) Laura E. Briggs et al.   DIFFERENTIATION

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease

(2012) Scott Smemo et al.   HUMAN MOLECULAR GENETICS

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

(2011) Catarina D. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Notch signaling in cardiac valve development and disease

(2011) Donal MacGrogan et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Strategies for aggregating gene expression data: The collapseRows R function

(2011) Jeremy A Miller et al.   BMC BIOINFORMATICS

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

(2011) Javier T. Granados-Riveron et al.   Congenital Heart Disease

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Heterogeneity of Genetic Modifiers Ensures Normal Cardiac Development

(2010) Julia B. Winston et al.   CIRCULATION

Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves

(2010) Santanu Chakraborty et al.   DEVELOPMENTAL BIOLOGY

Genome-wide identification of mouse congenital heart disease loci

(2010) A. Kamp et al.   HUMAN MOLECULAR GENETICS

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

Recurrence of Congenital Heart Defects in Families

(2009) Nina Øyen et al.   CIRCULATION

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot

(2009) R. Rauch et al.   JOURNAL OF MEDICAL GENETICS

A Novel Isoform of Human LZIP Negatively Regulates the Transactivation of the Glucocorticoid Receptor

(2009) Hyereen Kang et al.   MOLECULAR ENDOCRINOLOGY

Prox1 physically and functionally interacts with COUP-TFII to specify lymphatic endothelial cell fate

(2008) S. Lee et al.   BLOOD

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Behavioral characterization of mice lacking GIRK/Kir3 channel subunits

(2008) M. Pravetoni et al.   GENES BRAIN AND BEHAVIOR

The orphan nuclear receptor Rev-erbβ recruits Tip60 and HDAC1 to regulate apolipoprotein CIII promoter

(2007) Jiadong Wang et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH