1. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. (28th April 2017) Authors: Wu, Xingxing; Wang, Shu-Huei; Sun, Junjie; Krainer, Adrian R; Hua, Yimin; Prior, Thomas W Journal: Human molecular genetics Issue: Volume 26:Number 14(2017:Jul. 15) Page Start: 2768 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Duchenne Muscular Dystrophy Diagnostics: It Only Gets Better but Some of the Same Challenges Remain. (6th January 2020) Authors: Prior, Thomas W Journal: Clinical chemistry Issue: Volume 61:Number 6(2015) Page Start: 792 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. Issue 7 (1st July 2001) Authors: Chadwick, Robert B; Pyatt, Robert E; Niemann, Theodore H; Richards, Samuel K; Johnson, Cheryl K; Stevens, Michael W; Meek, Julie E; Hampel, Heather; Prior, Thomas W; de la Chapelle, Albert Journal: Journal of medical genetics Issue: Volume 38:Issue 7(2001) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Over-representation of PPARγ sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population. Issue 6 (1st June 2000) Authors: Zhou, Xiao-Ping; Smith, Wendy M; Gimm, Oliver; Mueller, Elisabetta; Gao, Xin; Sarraf, Pasha; Prior, Thomas W; Plass, Christoph; von Deimling, Andreas; Black, Peter McL; Yates, Allan J; Eng, Charis Journal: Journal of medical genetics Issue: Volume 37:Issue 6(2000) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features. Issue 8 (9th June 2011) Authors: Pilarski, Robert; Stephens, Julie A; Noss, Ryan; Fisher, James L; Prior, Thomas W Journal: Journal of medical genetics Issue: Volume 48:Issue 8(2011) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗