ORCA
Online Research @ CardiffÂ
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Ivanov, Dobril  ORCID: https://orcid.org/0000-0001-6271-6301, Hamby, Stephen E., Stenson, Peter Daniel, Phillips, Andrew David, Kehrer-Sawatzki, Hildegard, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chuzhanova, Nadia
2011.
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.
Human Mutation
32
(6)
, pp. 620-632.
10.1002/humu.21483
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Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Mort, Matthew Edwin, Stenson, Peter Daniel, Ball, Edward Vincent and Chuzhanova, Nadia A.
2010.
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.
Human Genomics
4
(6)
, pp. 406-410.
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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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| 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 |
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Mort, Matthew Edwin, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Chuzhanova, Nadia
2008.
A meta-analysis of nonsense mutations causing human genetic disease.
Human Mutation
29
(8)
, pp. 1037-1047.
10.1002/humu.20763
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