ORCA
Online Research @ CardiffÂ
Browse by All Cardiff Authors
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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
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Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Chen, Jian-Min, Ball, Edward Vincent, Howells, Katy, Mort, Matthew Edwin, Phillips, Andrew David, Chuzhanova, Nadia, Krawczak, Michael, Kehrer-Sawatzki, Hildegard and Stenson, Peter Daniel
2010.
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Human Mutation
31
(6)
, pp. 631-655.
10.1002/humu.21260
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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
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Jones, Alistair C., Daniells, Claire E., Snell, Russell G., Tachataki, Maria, Idziaszczyk, Shelley Alexis, Krawczak, Michael, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458
1997.
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Human Molecular Genetics
6
(12)
, pp. 2155-2161.
10.1093/hmg/6.12.2155
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