Segmental duplications mediate novel, clinically relevant chromosome rearrangements

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

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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Long QT Syndrome

(2008) Ilan Goldenberg et al.   CURRENT PROBLEMS IN CARDIOLOGY

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

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

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics