1. Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program. Issue 5 (5th February 2021) Authors: Jarmolowicz, Anna I.; Baker, Emma K.; Bartlett, Essra; Francis, David; Ling, Ling; Gamage, Dinusha; Delatycki, Martin B.; Godler, David E. Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1498 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Paternal retraction of a fragile X allele to normal size, showing normal function over two generations. Issue 1 (21st September 2021) Authors: Bartlett, Essra; Archibald, Alison D.; Francis, David; Ling, Ling; Thomas, Rob; Chandler, Gabrielle; Ward, Lisa; O'Farrell, Gemma; Pandelache, Alison; Delatycki, Martin B.; Bennetts, Bruce H.; Ho, Gladys; Fisk, Katrina; Baker, Emma K.; Amor, David J.; Godler, David E. Journal: American journal of medical genetics Issue: Volume 188:Issue 1(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗