Article
Genome sequencing identifies major causes of severe intellectual disability.
Nature - 17 Jul 2014
Gilissen Christian, Hehir-Kwa Jayne Y, Thung Djie Tjwan, van de Vorst Maartje, van Bon Bregje W M, Willemsen Marjolein H, Kwint Michael, Janssen Irene M, Hoischen Alexander, Schenck Annette, Leach Richard, Klein Robert, Tearle Rick, Bo Tan, Pfundt Rolph, Yntema Helger G, de Vries Bert B A, Kleefstra Tjitske, Brunner Han G, Vissers Lisenka E L M, Veltman Joris A
Abstract excerpt
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely genetic in origin. The extensive genetic heterogeneity of this disorder requires a genome-wide detection of all types of genetic variation. Microarray studies and, more recently, exome sequencing have demonstrated the importance of de novo copy number variations (CNVs) and single-nucleotide variations (SNVs) in ID, but the...
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