Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Author:

Schuurs-Hoeijmakers Janneke H M,Vulto-van Silfhout Anneke T,Vissers Lisenka E L M,van de Vondervoort Ilse I G M,van Bon Bregje W M,de Ligt Joep,Gilissen Christian,Hehir-Kwa Jayne Y,Neveling Kornelia,del Rosario Marisol,Hira Gausiya,Reitano Santina,Vitello Aurelio,Failla Pinella,Greco Donatella,Fichera Marco,Galesi Ornella,Kleefstra Tjitske,Greally Marie T,Ockeloen Charlotte W,Willemsen Marjolein H,Bongers Ernie M H F,Janssen Irene M,Pfundt Rolph,Veltman Joris A,Romano Corrado,Willemsen Michèl A,van Bokhoven Hans,Brunner Han G,de Vries Bert B A,de Brouwer Arjan P M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference41 articles.

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3. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012

4. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study;Rauch;Lancet,2012

5. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium;de Brouwer;Hum Mutat,2007

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