1. A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA-defined 4qter subtelomere. Issue 3 (20th September 2006) Authors: Thomas, N S T; Wiseman, K; Spurlock, G; MacDonald, M; Üstek, D; Upadhyaya, M Journal: Journal of medical genetics Issue: Volume 44:Issue 3(2007) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Issue 7 (13th May 2009) Authors: Spurlock, G; Bennett, E; Chuzhanova, N; Thomas, N; Jim, H-Ping; Side, L; Davies, S; Haan, E; Kerr, B; Huson, S M; Upadhyaya, M Journal: Journal of medical genetics Issue: Volume 46:Issue 7(2009) Page Start: 431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗