Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations

(2014) Mark W. Russell et al.   HUMAN MOLECULAR GENETICS

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

(2014) Bradley P Coe et al.   NATURE GENETICS

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

(2013) G. Costain et al.   HUMAN MOLECULAR GENETICS

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

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

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

(2012) D Moreno-De-Luca et al.   MOLECULAR PSYCHIATRY

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

(2011) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity

(2011) Kristen L. Deak et al.   CLINICS IN LABORATORY MEDICINE

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

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd et al.   HUMAN MOLECULAR GENETICS

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE