Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing von Krawczak, Michael, Thomas, Nick S.T., Hundrieser, Bernd, Mort, Matthew, Wittig, Michael, Hampe, Jochen, Cooper, David N.

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Human Gene Mutation Database (HGMD®): 2003 update von Stenson, Peter D., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shiel, Jacqueline A., Thomas, Nick S.T., Abeysinghe, Shaun, Krawczak, Michael, Cooper, David N.

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Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis I... von Persichetti, Emanuele, Chuzhanova, Nadia A, Dardis, Andrea, Tappino, Barbara, Pohl, Sandra, Thomas, Nick S.T, 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

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The Human Gene Mutation Database: 2008 update von Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick St, Cooper, David N

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

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Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease von Wolf, Andreas, Caliebe, Amke, Thomas, Nick S.T., Ball, Edward V., Mort, Matthew, Stenson, Peter D., Krawczak, Michael, Cooper, David N.

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Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients von Tanner, Stephan M, Schneider, Vreni, Thomas, Nick S.T, Clarke, Angus, Lazarou, Lazarus, Liechti-Gallati, Sabina

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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease von Hamby, Stephen E, Thomas, Nick S T, Cooper, David N, Chuzhanova, Nadia

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Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer von TURNER, Clesson, KILLORAN, Christina, THOMAS, Nick S. T, ROSENBERG, Marjorie, CHUZHANOVA, Nadia A, JOHNSTON, Jennifer, KEMEL, Yelena, COOPER, David N, BIESECKER, Leslie G

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Human Gene Mutation Database (HGMD ® ): 2003 update: HGMD 2003 UPDATE von Stenson, Peter D., Ball, Edward V., Mort, Matthew, Phillips, Andrew D., Shiel, Jacqueline A., Thomas, Nick S.T., Abeysinghe, Shaun, Krawczak, Michael, Cooper, David N.

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Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study von Consalez, G G, Thomas, N S, Stayton, C L, Knight, S J, Johnson, M, Hopkins, L C, Harper, P S, Elsas, L J, Warren, S T

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Genome-wide association study of Alzheimer's disease with psychotic symptoms von Hollingworth, P, Sweet, R, Sims, R, Harold, D, Russo, G, Abraham, R, Stretton, A, Jones, N, Gerrish, A, Chapman, J, Ivanov, D, Moskvina, V, Lovestone, S, Priotsi, P, Lupton, M, Brayne, C, Gill, M, Lawlor, B, Lynch, A, Craig, D, McGuinness, B, Johnston, J, Holmes, C, Livingston, G, Bass, N J, Gurling, H, McQuillin, A, Holmans, P, Jones, L, Devlin, B, Klei, L, Barmada, M M, Demirci, F Y, DeKosky, S T, Lopez, O L, Passmore, P, Owen, M J, O'Donovan, M C, Mayeux, R, Kamboh, M I, Williams, J

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