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

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

(2009) J. Coppinger et al.   HUMAN MOLECULAR 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

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN 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

Neuropilins: structure, function and role in disease

(2008) Caroline Pellet-Many et al.   BIOCHEMICAL JOURNAL

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

(2008) Sintia Iole Nogueira et al.   European Journal of Medical Genetics

A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts

(2008) S. M. Reamon-Buettner et al.   HUMAN MOLECULAR GENETICS

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   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

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Cryptic Chromosomal Abnormalities Identified in Children With Congenital Heart Disease

(2008) Ashleigh A Richards et al.   PEDIATRIC RESEARCH

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Detailed analysis of 22q11.2 with a high density MLPA probe set

(2007) G.R. Jalali et al.   HUMAN MUTATION