Search

Author/Creator Hoffman, Trevor L.

3. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Issue 9 (11th May 2022)

Authors:
O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, ...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 9(2022)
Page Start:
2750
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Issue 2 (11th December 2021)

Authors:
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Fa...
Journal:
Human mutation
Issue:
Volume 43:Issue 2(2022)
Page Start:
266
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗