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Number of items: 40.

Upadhyaya, Meena, Spurlock, Gillian, Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Thomas, Nicholas Stuart Tudor, Richards, Mark ORCID: https://orcid.org/0000-0002-2266-3329, Mautner, Viktor-Felix, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Guha, Abhijit and Yan, Jim 2012. 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 33 (4) , pp. 763-776. 10.1002/humu.22044

Richards, Mark, Coppée, Frédérique, Thomas, Nicholas Stuart Tudor, Belayew, Alexandra and Upadhyaya, Meena 2012. Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Human Genetics 131 (3) , pp. 325-340. 10.1007/s00439-011-1100-z

Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207

Hamby, S. E., Thomas, Nicholas Stuart Tudor, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chuzhanova, Nadia 2011. A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. Human Genomics 5 (4) , pp. 241-264.

Wolf, Andreas, Caliebe, Amke, Thomas, Nicholas Stuart Tudor, Ball, Edward Vincent, Mort, Matthew Edwin, Stenson, Peter Daniel, Krawczak, Michael and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2011. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease. Human Mutation 32 (10) , pp. 1137-1143. 10.1002/humu.21547

Laycock-Van spyk, Sebastian, Thomas, Nicholas Stuart Tudor, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Upadhyaya, Meena 2011. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 5 (6) , pp. 623-690.

Spurlock, Gillian, Knight, Samantha, Thomas, Nicholas Stuart Tudor, Kiehl, Tim-Rasmus, Guha, Abhijit Ranjan and Upadhyaya, Meena 2010. Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. Journal of Cancer Research and Clinical Oncology 136 (12) , pp. 1869-1880. 10.1007/s00432-010-0846-3

Persichetti, Emanuele, Chuzhanova, Nadia, Dardis, Andrea, Tappino, Barbara, Pohl, Sandra, Thomas, Nicholas Stuart Tudor, 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 Neil ORCID: https://orcid.org/0000-0002-8943-8484, Filocamo, Mirella and Beccari, Tommaso 2009. 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 30 (6) , pp. 978-984. 10.1002/humu.20959

Spurlock, Gillian, Bennett, Emma Louise, Chuzhanova, Nadia, Thomas, Nicholas Stuart Tudor, Jim, Hoi-Ping, Side, L., Davies, S., Haan, E., Kerr, Briedgeen, Huson, S. M. and Upadhyaya, Meena 2009. SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. Journal of Medical Genetics 46 (7) , pp. 431-437. 10.1136/jmg.2008.065474

Upadhyaya, Meena, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Bennett, Emma, Thomas, Nicholas Stuart Tudor, Guha, Abhijit and Mautner, Victor 2009. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 10 (3) , pp. 251-263. 10.1007/s10048-009-0178-0

Upadhyaya, Meena, Spurlock, Gillian, Monem, Bisma Qamar, Thomas, Nicholas Stuart Tudor, Friedrich, Reinhard E., Kluwe, Lan and Mautner, Victor 2008. Germline and somatic NF1 gene mutations in plexiform neurofibromas. Human Mutation 29 (8) , E112-E122. 10.1002/humu.20793

Upadhyaya, Meena, Kluwe, Lan, Spurlock, Gillian, Monem, Bisma Qamar, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Ruggieri, Martino, Chuzhanova, Nadia, Evans, D. G., Ferner, R., Thomas, Nicholas Stuart Tudor, Guha, A. and Mautner, Victor 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation 29 (1) , pp. 74-82. 10.1002/humu.20601

Upadhyaya, Meena, Huson, Susan M., Davies, D. Mark, Thomas, Nicholas Stuart Tudor, Chuzhanova, Nadia, Giovannini, S., Evans, D. Gareth, Howard, E., Kerr, B., Griffiths, S., Consoli, Claudia, Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Liu, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. and Messiaen, Ludwine 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. The American Journal of Human Genetics 80 (1) , pp. 140-151. 10.1086/510781

Upadhyaya, Meena, Han, S., Consoli, Claudia, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Horan, M., Thomas, Nicholas Stuart, Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23 (2) , pp. 134-146. 10.1002/humu.10305

Stenson, Peter Daniel, Ball, Edward Vincent, Mort, Matthew Edwin, Phillips, Andrew David, Shiel, J. A., Thomas, Nicholas Stuart, Abeysinghe, S. S., Krawczak, M. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21 (6) , pp. 577-581. 10.1002/humu.10212

Turner, C., Kiloran, C., Thomas, Nicholas Stuart, Rosenberg, M., Chuzhanova, N. A., Johnston, J., Kemel, Y., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Biesecker, L. G. 2003. Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Human Genetics 112 (3) , pp. 303-309. 10.1007/s00439-002-0892-2

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Hughes, E., Lazarou, L. P., Morgan, D. E., Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Meredith, A. L. and Ravine, D. 1999. Mutation detection in patients with X-linked ectodermal dysplasia. Journal of Medical Genetics 36 (Supp 1) , S94-S94.

Tanner, Stephan M., Schneider, Vreni, Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Lazarou, Lazarus and Liechti-Gallati, Sabina 1999. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscular Disorders 9 (1) , pp. 41-49. 10.1016/S0960-8966(98)00090-X

Ferguson, B. M., Thomas, Nicholas Stuart Tudor, Munoz, F., Morgan, D., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Zonana, J. 1998. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. Journal of Medical Genetics 35 (2) , pp. 112-115. 10.1136/jmg.35.2.112

Thomas, Nicholas Stuart Tudor, Davies, K., Webb, T., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Price, W., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Pereira, J., Kerr, A., Anvret, M., Hanefeld, E. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1997. Molecular genetic studies in familial Rett syndrome. European Child & Adolescent Psychiatry 6 (Supp 1) , p. 94.

Kere, Juha, Srivastava, Anand K., Montonen, Outi, Zonana, Jonathan, Thomas, Nicholas Stuart Tudor, Ferguson, Betsy, Munoz, Felix, Morgan, Delyth, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Baybayan, Primo, Chen, Ellson Y., Ezer, Sini, Saarialho-Kere, Ulpu, de la Chapelle, Albert and Schlessinger, David 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genetics 13 (4) , pp. 409-416. 10.1038/ng0895-409

Hawksworth, Nicholas R., Headland, S., Good, P., Thomas, Nicholas Suart Tudor and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Aland island eye disease: clinical and electrophysiological studies of a Welsh family. British Journal of Ophthalmology 79 (5) , pp. 424-430. 10.1136/bjo.79.5.424

Zonana, J., Jones, M., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Gault, J., Muller, B. and Thomas, Nicholas Stuart Tudor 1994. Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 31 (4) , pp. 287-292. 10.1136/jmg.31.4.287

Zonana, J., Jones, M., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Thomas, Nicholas Stuart Tudor 1993. Identification of both de-novo molecular deletions and an apparent excess of male germ-line mutations in X-Linked hypohidrotic ectodermal dysplasia(EDA) - implications for genetic-counseling. American Journal of Human Genetics 53 (3) , p. 1263.

Thomas, Nicholas Stuart Tudor, Chelly, J., Zonana, J., Davies, K. J. P., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Roberts, S. H., Fielding, D., Fryer, A., Gault, J., Rack, K., Buckle, V. and Monaco, A. P. 1993. X-linked hypohidrotic ectodermal dysplasia(EDA) - analysis of cytogenetic rearrangements in 4 patients and development of a detailed physical map within XQ12-Q13.1. American Journal of Human Genetics 53 (3) , p. 1282.

Curtis, Andrew R. J., Headland, Sophie, Lindsay, Susan, Thomas, Nicholas Stuart Tudor, Boye, Eileen, Kamakari, Smaragda, Roustan, Paul, Anvret, Maria, Wahlstrom, Jan, McCarthy, Gillian, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bhattacharya, Shomi 1993. X chromosome linkage studies in familial Rett syndrome. Human Genetics 90 (5) , pp. 551-555. 10.1007/BF00217457

Zonana, J., Gault, J., Davies, K. J. P., Jones, M., Browne, D., Litt, M., Brockdorff, N., Rastan, S., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Thomas, Nicholas Stuart Tudor 1993. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. American Journal of Human Genetics 52 (1) , pp. 78-84.

Thomas, Nicholas Stuart Tudor, Chelly, J., Zonana, J., Davies, K. J. P., Morgan, S., Gault, J., Rack, K. A., Buckle, V. J., Brockdorff, N., Clare, A. and Monaco, A. 1993. Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA). Human Molecular Genetics 2 (10) , pp. 1679-1685. 10.1093/hmg/2.10.1679

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Bradley, Don M., Gillespie, K., Rees, Dafydd Aled ORCID: https://orcid.org/0000-0002-1165-9092, Holland, A. and Thomas, Nicholas Stuart Tudor 1992. Fragile X mental retardation and the iduronate sulphatase locus: testing laird's model of fra(X) inheritance. American Journal of Medical Genetics 43 (1-2) , pp. 299-306. 10.1002/ajmg.1320430146

Zonana, J., Jones, M., Browne, D, Kramer, P., Litt, M., Barker, D., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Thomas, Nicholas Stuart Tudor and Harper, Peter Stanley 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus (EDA). American Journal of Human Genetics 49 (4) , p. 209.

Thomas, Nicholas Stuart Tudor, Davies, K. P., Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Rastan, S. and Brockdorff, N. 1991. Molecular deletion analysis in X-linked hypohidrotic ectodermal dysplasia. American Journal of Human Genetics 49 (4) , p. 205.

Zonana, J., Jones, M., Kramer, P., Browne, D., Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Barker, D. and Litt, M. 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus(EDA). Cytogenetics and Cell Genetics 58 (3-4) , pp. 2091-2092.

Thomas, Nicholas Stuart Tudor, Williams, H., Cole, G., Roberts, K., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Liechti-Gallati, S., Braga, S., Gerber, Annelies, Meier, C. and Moser, H. 1990. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. Journal of Medical Genetics 27 (5) , pp. 284-287. 10.1136/jmg.27.5.284

Zonana, Jonathan, Sarfarazi, Mansoor, Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Marymee, Kathi and Harper, Peter Stanley 1989. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. The Journal of Pediatrics 114 (3) , pp. 392-399. 10.1016/S0022-3476(89)80556-6

Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Thomas, Nicholas Stuart Tudor, Sarfarazi, M., Roberts, K., Marymee, K. and Harper, Peter Stanley 1988. Linkage analysis of x-linked hypohidrotic ectodermal dysplasia: implications for carrier detection and prenatal diagnosis. Journal of Medical Genetics 25 (4) , p. 274. 10.1136/jmg.25.4.274

Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M., Thomas, Nicholas Stuart Tudor, Roberts, K., Marymee, K. and Harper, Peter Stanley 1988. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. American Journal of Human Genetics 43 (1) , pp. 75-85.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M., Thomas, Nicholas Stuart Tudor, Roberts, K. and Harper, Peter Stanley 1987. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Human Genetics 75 (4) , pp. 378-380. 10.1007/BF00284112

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M. and Thomas, Nicholas Stuart Tudor 1986. Hypohidrotic ectodermal dysplasia - localization to the proximal long arm of the x-chromosome. Journal of Medical Genetics 23 (5) , p. 473.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Roberts, S. H., Thomas, Nicholas Stuart Tudor, Whitfield, A., Williams, J. and Harper, Peter Stanley 1986. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Journal of Medical Genetics 23 (6) , pp. 501-508. 10.1136/jmg.23.6.501

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