Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

(2017) Dustin Baldridge et al.   GENETICS IN MEDICINE

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

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Meta-analytic support vector machine for integrating multiple omics data

(2017) SungHwan Kim et al.   BioData Mining

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

Medical implications of technical accuracy in genome sequencing

(2016) Rachel L. Goldfeder et al.   Genome Medicine

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

(2016) James R. Priest et al.   PLoS Genetics

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

(2015) Yaojuan Jia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

(2015) Dale L. Bodian et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

(2015) J. Homsy et al.   SCIENCE

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

(2015) Karen Regina de Souza et al.   Biomed Research International

Identification of copy number variants in whole-genome data using Reference Coverage Profiles

(2015) Gustavo Glusman et al.   Frontiers in Genetics

The pathogenicity of genetic variants previously associated with left ventricular non-compaction

(2015) Yeganeh Abbasi et al.   Molecular Genetics & Genomic Medicine

Genetic basis of congenital cardiovascular malformations

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

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

(2014) Diana Braunholz et al.   HUMAN MUTATION

Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

(2014) Dale L. Bodian et al.   PLoS One

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

(2014) Ana Töpf et al.   PLoS One

Characterization of Nodal/TGF-Lefty Signaling Pathway Gene Variants for Possible Roles in Congenital Heart Diseases

(2014) Xia Deng et al.   PLoS One

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Roles of miR-1-1 and miR-181c in ventricular septal defects

(2013) Jian Li et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome

(2012) Minoru Tada et al.   FEBS Journal

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot

(2012) RI-TAI HUANG et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

(2011) M Iascone et al.   CLINICAL GENETICS

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

(2011) Maximilian G. Posch et al.   PLoS One

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Fetal cardiac effects of maternal hyperglycemia during pregnancy

(2009) Niamh Corrigan et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature

(2009) Charles Shaw-Smith   European Journal of Medical Genetics

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

(2009) Prateek Kumar et al.   Nature Protocols

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

(2008) Bhagyalaxmi Mohapatra et al.   HUMAN MOLECULAR GENETICS