Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
Krawczak, Michael, Thomas, Nick S.T., Hundrieser, Bernd, Mort, Matthew, Wittig, Michael, Hampe, Jochen, Cooper, David N.
Published in Human mutation (01.02.2007)
Published in Human mutation (01.02.2007)
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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 tumorigenesis
Upadhyaya, Meena, Spurlock, Gill, Thomas, Laura, Thomas, Nick S. T., Richards, Mark, Mautner, Viktor-Felix, Cooper, David N., Guha, Abhijit, Yan, Jim
Published in Human mutation (01.04.2012)
Published in Human mutation (01.04.2012)
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Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease
Wolf, Andreas, Caliebe, Amke, Thomas, Nick S.T., Ball, Edward V., Mort, Matthew, Stenson, Peter D., Krawczak, Michael, Cooper, David N.
Published in Human mutation (01.10.2011)
Published in Human mutation (01.10.2011)
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Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
TURNER, Clesson, KILLORAN, Christina, THOMAS, Nick S. T, ROSENBERG, Marjorie, CHUZHANOVA, Nadia A, JOHNSTON, Jennifer, KEMEL, Yelena, COOPER, David N, BIESECKER, Leslie G
Published in Human genetics (01.03.2003)
Published in Human genetics (01.03.2003)
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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas
THOMAS, Laura, SPURLOCK, Gill, UPADHYAYA, Meena, EUDALL, Claire, THOMAS, Nick S, MORT, Matthew, HAMBY, Stephen E, CHUZHANOVA, Nadia, BREMS, Hilde, LEGIUS, Eric, COOPER, David N
Published in European journal of human genetics : EJHG (01.04.2012)
Published in European journal of human genetics : EJHG (01.04.2012)
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The Human Gene Mutation Database: 2008 update
Stenson, Peter D, Mort, Matthew, Ball, Edward V, Howells, Katy, Phillips, Andrew D, Thomas, Nick St, Cooper, David N
Published in Genome medicine (22.01.2009)
Published in Genome medicine (22.01.2009)
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Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
Upadhyaya, Meena, Han, Song, Consoli, Claudia, Majounie, Elisa, Horan, Martin, Thomas, Nick S., Potts, Christopher, Griffiths, Sian, Ruggieri, Martino, von Deimling, Andreas, Cooper, David N.
Published in Human mutation (01.02.2004)
Published in Human mutation (01.02.2004)
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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 III gamma
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
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Human Gene Mutation Database (HGMD®): 2003 update
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.
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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