1. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020) Authors: Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 962 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. Issue 8 (2nd September 2017) Authors: Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D; Boukas, Leandros; Cho, Megan T; Gurnett, Christina A; Benke, Paul J; Beaver, Erin; Heeley, Jennifer M; Medne, Livija; Krantz, Ian D; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B; Wentzensen, Ingrid M; Baskin, Berivan; Sacoto, Ma... Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders. (10th April 2015) Authors: Hu, Jie; Sathanoori, Malini; Kochmar, Sally; Azage, Meron; Mann, Susan; Madan‐Khetarpal, Suneeta; Goldstein, Amy; Surti, Urvashi Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗