An estimation of the prevalence of genomic disorders using chromosomal microarray data

The human clinical phenotypes of altered CHRNA7 copy number

(2015) Madelyn A. Gillentine et al.   BIOCHEMICAL PHARMACOLOGY

Clinical phenotype of the recurrent 1q21.1 copy-number variant

(2015) Raphael Bernier et al.   GENETICS IN MEDICINE

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

(2015) Katrin Männik et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability

(2014) Francesca Antonacci et al.   NATURE GENETICS

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

Estimates of penetrance for recurrent pathogenic copy-number variations

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

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

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

Velo-cardio-facial syndrome: 30 Years of study

(2008) Robert J. Shprintzen   Developmental Disabilities Research Reviews

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

(2008) Andrew J Sharp et al.   NATURE GENETICS