1. FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. (18th December 2017) Authors: Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzońca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosińska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax... Journal: Human molecular genetics Issue: Volume 27:Number 4(2018:Feb. 15) Page Start: 589 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. Issue 2 (23rd October 2018) Authors: Murcia Pienkowski, Victor; Kucharczyk, Marzena; Młynek, Marlena; Szczałuba, Krzysztof; Rydzanicz, Małgorzata; Poszewiecka, Barbara; Skórka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosińska, Joanna; Krajewski, Paweł; Castaneda, Jennifer; Ob... Journal: Journal of medical genetics Issue: Volume 56:Issue 2(2019) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗