1. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018) Authors: Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Issue 1 (December 2016) Authors: Stevens, Servi; van Essen, Anthonie; van Ravenswaaij, Conny; Elias, Abdallah; Haven, Jaclyn; Lelieveld, Stefan; Pfundt, Rolph; Nillesen, Willy; Yntema, Helger; van Roozendaal, Kees; Stegmann, Alexander; Gilissen, Christian; Brunner, Han Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗