Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of ERCC6

(2011) Shailly Jain Ghai et al.   European Journal of Medical Genetics

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease

(2010) Güney Bademci et al.   HUMAN MUTATION

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

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

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

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation inERCC6

(2008) Tzipora C. Falik-Zaccai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

(2008) Prakesh S. Shah et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

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