ORCA
Online Research @ Cardiff
Browse by Current Cardiff authors
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Neville, Matthew D.C., Kohze, Robin, Erady, Chaitanya, Meena, Narendra, Hayden, Matthew, Cooper, David N.  ORCID: https://orcid.org/0000-0002-8943-8484, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935 and Prabakaran, Sudhakaran
2021.
A platform for curated products from novel Open Reading Frames (nORFs) prompts reinterpretation of disease variants.
Genome Research
31
(2)
, pp. 327-336.
10.1101/gr.263202.120
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Stenson, Peter D., Mort, Matthew, Ball, Edward V., Chapman, Molly, Evans, Katy, Azevedo, Luisa, Hayden, Matthew, Heywood, Sally, Millar, David S., Phillips, Andrew D. and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484
2020.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Human Genetics
139
, pp. 1197-1207.
10.1007/s00439-020-02199-3
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Chen, Jian-Min, Lin, Jin-Huan, Masson, Emmanuelle, Liao, Zhuan, Férec, Claude, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 and Hayden, Matthew
2020.
The experimentally obtained functional impact assessments of 5' splice site GT>GC variants differ markedly from those predicted.
Current Genomics
21
(1)
, pp. 56-66.
10.2174/1389202921666200210141701
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Lin, Jin-Huan, Tang, Xin-Ying, Boulling, Arnaud, Zou, Wen-Bin, Masson, Emmanuelle, Fichou, Yann, Raud, Loann, Le Tertre, Marlène, Deng, Shun-Jiang, Berlivet, Isabelle, Ka, Chandran, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Hayden, Matthew, Leman, Raphaël, Houdayer, Claude, Le Gac, Gerald, Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484, Li, Zhao-Shen, Férec, Claude, Liao, Zhuan and Chen, Jian-Min
2019.
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Human Mutation
40
(10)
, pp. 1856-1873.
10.1002/humu.23821
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