Nick Thomas - Publications, H-index & Citations

Nick Thomas

King's College Hospital NHS Foundation Trust

31H指数

67论文数

6.7K被引数

收录论文 12

发表时间

Longitudinal Vestibular Schwannoma Dataset with Consensus-based Human-in-the-loop Annotations 纵向前庭神经鞘瘤数据集，具有基于共识的人机协同注释

Scientific Data

IF6.9

2026-09-29

OAAI

Navodini Wijethilake; Marina Ivory; Oscar MacCormac; Siddhant Kumar; Aaron Kujawa; Lorena Garcia-Foncillas Macias; Rebecca Burger; Amanda Hitchings; Suki Thomson; Sinan Barazi; Eleni Maratos; Rupert Obholzer; Dan Jiang; Fiona McClenaghan; Kazumi Chia; Omar Al-Salihi; Nick Thomas; Steve Connor; Tom Vercauteren; Jonathan Shapey

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-04-01

OAAI

Evans, D. Gareth; Mostaccioli, Stefania; Pang, David; Connor, Mary Fadzil O.; Pittara, Melpo; Champollion, Nicolas; Wolkenstein, Pierre; Thomas, Nick; Ferner, Rosalie E.; Kalamarides, Michel; Peyre, Matthieu; Papi, Laura; Legius, Eric; Becerra, Juan Luis; King, Andrew; Duff, Chris; Stivaros, Stavros; Blanco, Ignacio

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis

HUMAN MUTATION

IF3.7

2012-03-05

OAAI

Upadhyaya, Meena; Spurlock, Gill; Thomas, Laura; Thomas, Nick S. T.; Richards, Mark; Mautner, Viktor-Felix; Cooper, David N.; Guha, Abhijit; Yan, Jim

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

HUMAN GENETICS

IF3.6

2011-10-09

OAAI

Richards, Mark; Coppee, Frederique; Thomas, Nick; Belayew, Alexandra; Upadhyaya, Meena

Single Base-Pair Substitutions at the Translation Initiation Sites of Human Genes as a Cause of Inherited Disease 人类基因翻译起始位点的单碱基对取代是遗传性疾病的原因

HUMAN MUTATION

IF3.7

2011-09-08

OAAI

Wolf, Andreas; Caliebe, Amke; Thomas, Nick S. T.; Ball, Edward V.; Mort, Matthew; Stenson, Peter D.; Krawczak, Michael; Cooper, David N.

Identification and Molecular Characterization of Six Novel Mutations in the UDP-N-Acetylglucosamine-1-Phosphotransferase Gamma Subunit (GNPTG) Gene in Patients with Mucolipidosis III Gamma

HUMAN MUTATION

IF3.7

2009-06-01

OAAI

Persichetti, Emanuele; Chuzhanova, Nadia A.; Dardis, Andrea; Tappin, Barbara; Pohl, Sandra; St Thomas, Nick; Rosano, Camillo; Balducci, Chiara; Paciotti, Silvia; Dominissini, Silvia; Montalvo, Anna Lisa; Sibilio, Michela; Parini, Rossella; Rigoldi, Miriam; Di Rocco, Maja; Parenti, Giancarlo; Orlacchio, Aldo; Bembi, Bruno; Cooper, David N.; Filocamo, Mirella; Beccari, Tommaso

The Human Gene Mutation Database: 2008 update

GENOME MEDICINE

IF11.2

2009-01-22

786

OAAI

Stenson, Peter D.; Mort, Matthew; Ball, Edward V.; Howells, Katy; Phillips, Andrew D.; Thomas, Nick S. T.; Cooper, David N.

Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing 人类基因外显子-内含子连接中的单碱基对取代: mRNA剪接的性质，分布和后果

HUMAN MUTATION

IF3.7

2007-02-01

318

OAAI

Krawczak, Michael; Thomas, Nick S. T.; Hundrieserl, Bernd; Mort, Matthew; Wittig, Michael; Hampe, Jochen; Cooper, David N.

Germline and somatic NF1 gene mutation spectrum in NF1-associiated malignant peripheral nerve sheath tumors (MPNSTs)NF1-associiated恶性外周神经鞘瘤 (MPNSTs) 的种系和体细胞NF1基因突变谱

HUMAN MUTATION

IF3.7

2007-01-01

145

PREAI

Upadhyaya, M.; Kluwe, Lan; Spurlock, G.; Monem, Bisma; Majounie, E.; Mantripragada, K.; Ruggieri, Martino; Chuzhanova, N.; Evans, D. G.; Ferner, R.; Thomas, N.; Guha, A.; Mautner, V.

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

JOURNAL OF MEDICAL GENETICS

IF3.7

2006-12-08

OAAI

Thomas, N. S. T.; Wiseman, K.; Spurlock, G.; MacDonald, M.; Ustek, D.; Upadhyaya, M.

Human gene mutation database - A biomedical information and research resource

HUMAN MUTATION

IF3.7

2000-01-01

228

OAAI

Krawczak, M; Ball, EV; Fenton, I; Stenson, PD; Abeysinghe, S; Thomas, N; Cooper, DN

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

NATURE GENETICS

IF31.8

1996-08-01

606

PREAI

Kere, J; Srivastava, AK; Montonen, O; Zonana, J; Thomas, N; Ferguson, B; Munoz, F; Morgan, D; Clarke, A; Baybayan, P; Chen, EY; Ezer, S; SaarialhoKere, U; delaChapelle, A; Schlessinger, D

研究方向