James O Sullivan

James O Sullivan

University of Manchester - Manchester / United Kingdom
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 1600474
person_outline James O Sullivan's MOST POPULAR ARTICLES
1-) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingGI Rice, Y del Toro Duany, EM Jenkinson, G Forte, BH Anderson, ...Nature genetics 46 (5), 503-509, 20144952014
2-) Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 MutationsMJ Smith, C Beetz, SG Williams, SS Bhaskar, J O\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\\'Sullivan, B Anderson, ...Journal of Clinical Oncology 32 (36), 4155-4161, 20142532014
3-) Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...Nature genetics 44 (3), 338-342, 20122512012
4-) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, MA Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, ...Journal of medical genetics 43 (5), 401-405, 20062622006
5-) Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomasMJ Smith, J O\'Sullivan, SS Bhaskar, KD Hadfield, G Poke, J Caird, ...Nature genetics 45 (3), 295-298, 20132512013