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The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Among authors: brookes aj. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.
Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, Dash D, Rajeevan H, Darlison MW, Woon M, Fredman D, Smith AV, Senger M, Naito K, Sugawara H. Brookes AJ, et al. Hum Mutat. 2009 Jun;30(6):968-77. doi: 10.1002/humu.20973. Hum Mutat. 2009. PMID: 19479963
HGV2011: personalized genomic medicine meets the incidentalome.
Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY. Wilson Sayres MA, et al. Among authors: brookes aj. Hum Mutat. 2012 Mar;33(3):582-5. doi: 10.1002/humu.22008. Epub 2012 Jan 17. Hum Mutat. 2012. PMID: 22170622 Free PMC article.
197 results