Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

(2015) Juan Geng et al.   BMC GENOMICS

Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array

(2014) Can Liao et al.   PRENATAL DIAGNOSIS

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

(2013) Abigail S. Carey et al.   Circulation-Cardiovascular Genetics

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

(2013) Samir Zaidi et al.   NATURE

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

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

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart Syndrome

(2012) Ashleigh R. Payne et al.   PEDIATRIC CARDIOLOGY

Human gene copy number spectra analysis in congenital heart malformations

(2012) Aoy Tomita-Mitchell et al.   PHYSIOLOGICAL GENOMICS

The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based Study

(2011) Robert J. Hartman et al.   PEDIATRIC CARDIOLOGY

Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

(2010) Siddharth K. Prakash et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome

(2010) Ercan Mihci et al.   Anadolu Kardiyoloji Dergisi-The Anatolian Journal of Cardiology

Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome

(2010) Remco Visser et al.   Hormone Research in Paediatrics

Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

(2010) Hansoo Park et al.   NATURE GENETICS

A review of trisomy X (47,XXX)

(2010) Nicole R Tartaglia et al.   Orphanet Journal of Rare Diseases

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature

(2009) Michael R. Rossi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Singapore Genome Variation Project: A haplotype map of three Southeast Asian populations

(2009) Y.-Y. Teo et al.   GENOME RESEARCH

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan

(2009) Chien-Hsing Lin et al.   GENOMICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH