1. Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Issue 1 (January 2020) Authors: Lam, Zena; Albaba, Shadi; Study, DDD; Balasubramanian, Meena Journal: Clinical dysmorphology Issue: Volume 29:Issue 1(2020:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Issue 12 (26th October 2017) Authors: Bruel, Ange-Line; Bigoni, Stefania; Kennedy, Joanna; Whiteford, Margo; Buxton, Chris; Parmeggiani, Giulia; Wherlock, Matt; Woodward, Geoff; Greenslade, Mark; Williams, Maggie; St-Onge, Judith; Ferlini, Alessandra; Garani, Giampaolo; Ballardini, Elisa; van Bon, Bregje W; Acuna-Hidalgo, Rocio; Bohr... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (January 2018) Authors: Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju; Nas... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis. (March 2018) Authors: Khan, Umair; Study, DDD; Baker, Eleanor; Clayton-Smith, Jill Journal: Cleft palate-craniofacial journal Issue: Volume 55:Number 3(2018) Page Start: 456 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature. Issue 4 (October 2018) Authors: Kanani, Farah; Study, DDD; Balasubramanian, Meena Journal: Clinical dysmorphology Issue: Volume 27:Issue 4(2018:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Issue 11 (11th August 2015) Authors: DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Study, DDD; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig... Journal: Journal of medical genetics Issue: Volume 52:Issue 11(2015) Page Start: 754 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗