Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

(2015) Elisabeth E. Mlynarski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

The role of the protein tyrosine phosphatase SHP2 in cardiac development and disease

(2015) Jessica Lauriol et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Rare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia

(2014) Li Xie et al.   PLoS One

Burden of copy number variation in common variable immunodeficiency

(2013) M. Keller et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Global increases in both common and rare copy number load associated with autism

(2013) Santhosh Girirajan et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

(2013) H. J. Cordell et al.   HUMAN MOLECULAR GENETICS

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

(2013) Samir Zaidi et al.   NATURE

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

(2013) Eleanor Wheeler et al.   NATURE GENETICS

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

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

(2012) Judith A. Goodship et al.   Circulation-Cardiovascular Genetics

Slits affect the timely migration of neural crest cells via robo receptor

(2012) Dion Giovannone et al.   DEVELOPMENTAL DYNAMICS

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

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

Human gene copy number spectra analysis in congenital heart malformations

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

Contribution of Rare Copy Number Variants to Isolated Human Malformations

(2012) Clara Serra-Juhé et al.   PLoS One

Signaling Mechanisms Controlling Cell Fate and Embryonic Patterning

(2012) N. Perrimon et al.   Cold Spring Harbor Perspectives in Biology

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

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

Complex Congenital Heart Disease in Unaffected Relatives of Adults With 22q11.2 Deletion Syndrome

(2011) Jodi-Ann M. Swaby et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

Rare structural variation of synapse and neurotransmission genes in autism

(2011) X Gai et al.   MOLECULAR PSYCHIATRY

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

(2010) Xiaowu Gai et al.   BMC BIOINFORMATICS

Dissecting spatio-temporal protein networks driving human heart development and related disorders

(2010) Kasper Lage et al.   Molecular Systems Biology

ErbB signaling in cardiac development and disease

(2010) Pablo Sanchez-Soria et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

(2009) Steven C Greenway et al.   NATURE GENETICS

Tetralogy of Fallot as a Model to Study Cardiac Progenitor Cell Migration and Differentiation During Heart Development

(2009) Valentina Di Felice et al.   TRENDS IN CARDIOVASCULAR MEDICINE

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

(2008) Elizabeth Goldmuntz et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

(2008) Beverly S. Emanuel   Developmental Disabilities Research Reviews