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Number of items: 5.

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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Stenson, Peter D., Mort, Matthew, Ball, Edward V., Evans, Katy, Hayden, Matthew, Heywood, Sally, Hussain, Michelle, Phillips, Andrew and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136 (6) , pp. 665-677. 10.1007/s00439-017-1779-6
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