1. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Ethical and Professional Challenges Encountered by Laboratory Genetic Counselors. Issue 4 (16th November 2014) Authors: Groepper, Daniel; McCarthy Veach, Patricia; LeRoy, Bonnie S.; Bower, Matthew Journal: Journal of genetic counseling Issue: Volume 24:Issue 4(2015) Page Start: 580 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype. Issue 7 (15th April 2022) Authors: Fry, Deanna; Groepper, Daniel; MacCarrick, Gretchen; Demo, Erin M.; Thomas, Matthew J.; Wilkes, Margaret J.; Lyons, Michael J.; Tucker, Megan E.; Steding, Catherine; Fleischer, Julie Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021) Authors: van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna... Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗