Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

(2010) Bernard Thienpont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic factors in non-syndromic congenital heart malformations

(2010) MW Wessels et al.   CLINICAL GENETICS

High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting

(2010) J Wincent et al.   CLINICAL GENETICS

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms

(2010) Steven B. Bleyl et al.   HUMAN MOLECULAR GENETICS

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

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

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

A newborn with unusual morphology: some practical aspects

(2010) Raoul C.M. Hennekam   Seminars in Fetal & Neonatal Medicine

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

(2010) Roland Barriot et al.   Genome Medicine

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

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Steven C Greenway et al.   NATURE GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The del22q11.2 Candidate Gene Tbx1 Controls Regional Outflow Tract Identity and Coronary Artery Patterning

(2008) Magali Théveniau-Ruissy et al.   CIRCULATION RESEARCH

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

(2008) Jeroen Breckpot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

The developmental genetics of congenital heart disease

(2008) Benoit G. Bruneau   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Genotype, haplotype and copy-number variation in worldwide human populations

(2008) Mattias Jakobsson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

(2008) Ashleigh A Richards et al.   PEDIATRIC RESEARCH