Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

Peter Lichter, Thomas Cremer, Jonathan Borden et al. · Human Genetics · 1988 · 1.2K citations

Life Sciences, Genetics, Molecular Biology +13

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Maricela Alarcón, Brett S. Abrahams, Jennifer Stone et al. · The American Journal of Human Genetics · 2008 · 825 citations · Full text

Life Sciences, Genetics, Neuroscience +12

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

Dorothy Warburton · PubMed · 1991 · 680 citations

Life Sciences, Genetics, Molecular Genetics +17

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

Dan E. Arking, David J. Cutler, Camille W. Brune et al. · The American Journal of Human Genetics · 2008 · 594 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16