1. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Rare SUZ12 variants commonly cause an overgrowth phenotype. Issue 4 (17th November 2019) Authors: Cyrus, Sharri S.; Cohen, Ana S. A.; Agbahovbe, Ruky; Avela, Kristiina; Yeung, Kit S.; Chung, Brian H. Y.; Luk, Ho‐Ming; Tkachenko, Nataliya; Choufani, Sanaa; Weksberg, Rosanna; Lopez‐Rangel, Elena; Brown, Kathleen; Saenz, Margarita S.; Svihovec, Shayna; McCandless, Shawn E.; Bird, Lynne M.; Garci... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗