Publication
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
Janneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, Ilse I G M van de Vondervoort, Bregje W M van Bon, Joep de Ligt, Christian Gilissen, Jayne Y Hehir-Kwa, Kornelia Neveling, Marisol del Rosario, Gausiya Hira, Santina Reitano, Aurelio Vitello, Pinella Failla, Donatella Greco, Marco Fichera, Ornella Galesi, Tjitske Kleefstra, Marie T Greally, Charlotte W Ockeloen, Marjolein H Willemsen, Ernie M H F Bongers, Irene M Janssen, Rolph Pfundt, Joris A Veltman, Corrado Romano, Michèl A Willemsen, Hans van Bokhoven, Han G Brunner, Bert B A de Vries, Arjan P M de Brouwer
Journal of Medical Genetics, October 2013, BMJ
DOI: 10.1136/jmedgenet-2013-101644