Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

(2009) I. Cusco et al.   HUMAN MOLECULAR GENETICS

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

(2008) Hylke M Blauw et al.   LANCET NEUROLOGY

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Cytogenetic Technology — Genotype and Phenotype

(2008) David H. Ledbetter   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