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Number of items: 26.

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

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

Laycock-Van spyk, Sebastian, Jim, H. P., Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Spurlock, Gillian, Fares, L., Palmer-Smith, S., Kini, U., Saggar, A., Patton, M., Mautner, V., Pilz, Daniela T. and Upadhyaya, Meena 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80 (1) , pp. 93-96. 10.1111/j.1399-0004.2010.01618.x

Spurlock, Gillian, Jim, Hoi-Ping and Upadhyaya, Meena 2010. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle & Nerve 42 (5) , pp. 820-821. 10.1002/mus.21766

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

Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gillian, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena and Vidaud, Dominique 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human Mutation 31 (6) , E1506-E1518. 10.1002/humu.21271

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

Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Spurlock, Gillian, Kluwe, Lan, Chuzhanova, Nadia, Ferner, Rosalie E., Frayling, Ian Martin, Dumanski, Jan P., Guha, Abhijit Ranjan, Mautner, Victor and Upadhyaya, Meena 2008. High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clinical Cancer Research 14 (4) , pp. 1015-1024. 10.1158/1078-0432.CCR-07-1305

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

Stewart, H., Bowker, C., Edees, S., Smalley, S., Crocker, M., Mechan, D., Forrester, Natalie, Spurlock, Gillian and Upadhyaya, Meena 2008. Congenital disseminated neurofibromatosis type 1: a clinical and molecular case report. American Journal of Medical Genetics Part A 146A (11) , pp. 1444-1452. 10.1002/ajmg.a.32305

Kebudi, Rejin, Tuncer, Samuray, Upadhyaya, Meena, Peksayar, Gonul, Spurlock, Gillian and Yazici, Hulya 2008. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. Pediatric Blood & Cancer 50 (3) , pp. 713-715. 10.1002/pbc.21234

Nair, S., Phillips, Aled Owain ORCID: https://orcid.org/0000-0001-9744-7113, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Spurlock, Gillian, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Craig, Kathrine Jane, Williams, John David, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435 2008. Further evidence for the association of MMP9 with nephropathy in type 2 diabetes and application of DNA pooling technology to candidate gene screening. Journal of Nephology 21 (3) , pp. 400-405.

Upadhyaya, Meena, Spurlock, Gillian, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Evans, Gareth and Ferner, Rosalie 2006. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat 27 (7) , p. 716. 10.1002/humu.9429

Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Morris, Derek W., Bray, Nicholas John ORCID: https://orcid.org/0000-0002-4357-574X, Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Preece, Anna Charlotte, Dwyer, Sarah, Wilkinson, Jennifer C., Spurlock, Gillian, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Buckland, Paul Robert, Waddington, John L., Gill, Michael, Corvin, Aiden P., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael John ORCID: https://orcid.org/0000-0001-7073-2379 2006. Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141B (1) , pp. 96-101. 10.1002/ajmg.b.30236

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Preece, Anna Charlotte, Spurlock, Gillian, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, McCreadie, Robin G, Buckland, Paul Robert, Sharkey, Val, Chowdari, Kodavali V., Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Nimgaonkar, Vishwajit, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2004. Support for RGS4 as a susceptibility gene for schizophrenia. Biological Psychiatry 55 (2) , pp. 192-195. 10.1016/j.biopsych.2003.11.002

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Preece, Anna Charlotte, Morris, D. W., Spurlock, Gillian, Bray, Nicholas John ORCID: https://orcid.org/0000-0002-4357-574X, Stephens, Mark Keith, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Clement, Mathew ORCID: https://orcid.org/0000-0002-9280-5281, Dwyer, Sarah Lynne, Curran, Catherine, Wilkinson, Jennifer Camilla, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Waddington, J. L., Gill, M., Corvin, A. P., Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2004. Identification in two independent samples of a novel schizophrenia risk haplotype of the dystobrevin binding protein gene (DTNBP1). Archives of general psychiatry 61 (4) , pp. 336-344. 10.1001/archpsyc.61.4.336

Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Rees, Mark I., Bryan, E., Spurlock, Gillian, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Cardno, Alastair George, Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Jones, S., Jones, G., Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Smith, K. J., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Coleman, Sharon Louise, Guy, Carol, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Buckland, Paul Robert 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7 (5) , pp. 493-502. 10.1038/sj.mp.4001003

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Spurlock, Gillian, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2002. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Molecular Psychiatry 7 (5) , pp. 508-514. 10.1038/sj.mp.4001030

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Spurlock, Gillian, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Krawczak, Michael, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Nikolov, Ivan, Georgieva, Lyudmila, Jones, S., Cardno, Alastair George, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2002. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Molecular Psychiatry 7 (10) , pp. 1092-1100. 10.1038/sj.mp.4001188

Austin, J., Buckland, Paul Robert, Cardno, Alastair G., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Spurlock, Gillian, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Jones, G., Sanders, R., Jones, L., McCarthy, G., Jones, S., Bray, Nicholas John ORCID: https://orcid.org/0000-0002-4357-574X, McGuffin, Peter, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2000. The high affinity neurotensin receptor gene (NTSR1): comparative sequencing and association studies in schizophrenia. Molecular Psychiatry 5 (5) , pp. 552-557. 10.1038/sj.mp.4000761

Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Gill, M., Spurlock, Gillian, Vallada, H. P., Murray, R. M., McGuffin, P., Collier, D. A., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 1999. Linkage studies of bipolar disorder with chromosome 18 markers. American Journal of Medical Genetics 15 (88) , pp. 503-509. 10.1002/(SICI)1096-8628(19991015)88:5<503::AID-AJMG13>3.0.CO;2-U

Buckland, Paul Robert, Tidmarsh, Simon, Spurlock, Gillian, Kaiser, Fawad, Yates, Martin, O'Mahony, Gerald and McGuffin, Peter 1993. Amyloid precursor protein mRNA levels in the mononuclear blood cells of Alzheimer's and Down's patients. Molecular Brain Research 18 (4) , pp. 316-320. 10.1016/0169-328X(93)90095-7

O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Buckland, Paul Robert, Spurlock, Gillian and McGuffin, Peter 1992. Bi-directional changes in the levels of messenger RNAs encoding γ-aminobutyric acidA receptor α subunits after flurazepam treatment. European Journal of Pharmacology: Molecular Pharmacology 226 (4) , pp. 335-341. 10.1016/0922-4106(92)90051-V

Chappell, S. P., Morgan, K., Lewis, M. D., Spurlock, Gillian, Foord, S. M., Scanlon, Maurice Francis, Mir, M. A. and Lewis, Malcolm James 1986. Effect of hypothalamic (Na++K+) atpase inhibitor on isolated rabbit aortic strips. Clinical Science 70 (S13) , 23P-24P.

This list was generated on Tue Apr 15 08:34:49 2025 BST.


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