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

Genetics of Congenital Heart Disease

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

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease

(2013) Areti Syrmou et al.   PEDIATRIC RESEARCH

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

(2013) Kevin A. Strauss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2-q34.3

(2012) Wenbo Xu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

(2012) Eugen-Matthias Strehle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

(2012) Erin Rooney Riggs et al.   HUMAN MUTATION

Two Heterozygous Mutations in NFATC1 in a Patient with Tricuspid Atresia

(2012) Zahi Abdul-Sater et al.   PLoS One

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Birth Prevalence of Congenital Heart Disease Worldwide

(2011) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

(2011) Elizabeth Goldmuntz et al.   Congenital Heart Disease

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Penetrance for copy number variants associated with schizophrenia

(2010) E. Vassos et al.   HUMAN MOLECULAR GENETICS

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

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

(2010) Francesca Antonacci et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

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

Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion

(2009) M-L. Maurin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Steven C Greenway et al.   NATURE GENETICS

Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005

(2008) Mark D. Reller et al.   JOURNAL OF PEDIATRICS

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

(2008) Ashleigh A Richards et al.   PEDIATRIC RESEARCH