A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
- Creator: Jansen, Sandra , Hoischen, Alexander , Van Bon, Bregje W. , Claahsen-Van Der Grinten, Hedi L. , Gecz, Jozef , Gilissen, Christian , Grillo, Lucia , Hackett, Anna , Kleefstra, Tjitske , Koolen, David , Kvarnung, Malin , Larsen, Martin J. , Coe, Bradley P. , Marcelis, Carlo , McKenzie, Fiona , Monin, Marie-Lorraine , Nava, Caroline , Schuurs-Hoeijmakers, Janneke H. , Pfundt, Rolph , Steehouwer, Marlos , Stevens, Servi J.C. , Stumpel, Connie T. , Vansenne, Fleur , Carvill, Gemma L. , Vinci, Mirella , Van De Vorst, Maartje , Vries, Petra D. , Witherspoon, Kali , Veltman, Joris A. , Brunner, Han G. , Mefford, Heather C. , Romano, Corrado , Vissers, Lisenka E.L.M. , Eichler, Evan E. , Van Esch, Hilde , De Vries, Bert B.A. , Bosch, Danielle G.M. , Andersen, Ulla A. , Baker, Carl , Bauters, Marijke , Bernier, Raphael A.
- Resource Type: journal article
- Date: 2018
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
- Creator: Carvill, Gemma L. , McMahon, Jacinta M. , Mecarelli, Oriano , Smith, Robert L. , Leventer, Richard J. , Møller, Rikke S. , Nikanorova, Marina , Dimova, Petia , Jordanova, Albena , Petrou, Steven , Helbig, Ingo , Striano, Pasquale , Schneider, Amy , Zemel, Matthew , Myers, Candace T. , Saykally, Julia , Nguyen, John , Robbiano, Angela , Zara, Frederico , Specchio, Nicola
- Resource Type: journal article
- Date: 2015