Article
Diagnostic exome sequencing in persons with severe intellectual disability.
The New England journal of medicine - 15 Nov 2012
de Ligt Joep, Willemsen Marjolein H, van Bon Bregje W M, Kleefstra Tjitske, Yntema Helger G, Kroes Thessa, Vulto-van Silfhout Anneke T, Koolen David A, de Vries Petra, Gilissen Christian, del Rosario Marisol, Hoischen Alexander, Scheffer Hans, de Vries Bert B A, Brunner Han G, Veltman Joris A, Vissers Lisenka E L M
Abstract excerpt
BACKGROUND: The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity. METHODS: We evaluated patients with intellectual disability to exclude known causes of the disorder. We then sequenced the coding regions of more than 21,000 genes obtained from 100 patients with an IQ below 50 and their unaffected parents. A data-analysis procedure was developed to...
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