1. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Issue 12 (5th November 2021) Authors: Howell, Susan; Buchanan, Catherine; Davis, Shanlee M.; Miyazawa, Heather; Furuta, Glenn T.; Tartaglia, Nicole R.; Nguyen, Nathalie Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗