The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

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

Genetic Analysis of Essential Cardiac Transcription Factors in 256 Patients With Non-Syndromic Congenital Heart Defects

(2012) Kazuki Kodo et al.   CIRCULATION JOURNAL

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

(2012) Seema R Lalani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

(2012) Marc-Phillip Hitz et al.   PLoS Genetics

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

(2011) Larissa R Stewart et al.   BMC Medical Genetics

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

(2011) J. Breckpot et al.   CYTOGENETIC AND GENOME RESEARCH

2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features

(2011) Grace J. Noh et al.   European Journal of Medical Genetics

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

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

(2011) Rachel Soemedi et al.   HUMAN MOLECULAR GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

A Novel GATA4 Loss-of-Function Mutation Associated With Congenital Ventricular Septal Defect

(2011) Yi-Qing Yang et al.   PEDIATRIC CARDIOLOGY

Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease

(2011) Qian Jiang et al.   PLoS One

Reducing system noise in copy number data using principal components of self-self hybridizations

(2011) Y.-h. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2009) Steven C Greenway et al.   NATURE GENETICS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA)

(2008) V. Grubor et al.   BLOOD

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

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

(2008) Bhagyalaxmi Mohapatra et al.   HUMAN MOLECULAR GENETICS

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

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