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Page 1
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: brudno m. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
PhenoTips: patient phenotyping software for clinical and research use.
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. Girdea M, et al. Among authors: brudno m. Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24. Hum Mutat. 2013. PMID: 23636887
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. Köhler S, et al. Among authors: brudno m. Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11. Nucleic Acids Res. 2014. PMID: 24217912 Free PMC article.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Among authors: brudno m. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.
Phenotyping: targeting genotype's rich cousin for diagnosis.
Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Baynam G, et al. Among authors: brudno m. J Paediatr Child Health. 2015 Apr;51(4):381-6. doi: 10.1111/jpc.12705. Epub 2014 Aug 11. J Paediatr Child Health. 2015. PMID: 25109851 Review.
Identification of deleterious synonymous variants in human genomes.
Buske OJ, Manickaraj A, Mital S, Ray PN, Brudno M. Buske OJ, et al. Among authors: brudno m. Bioinformatics. 2015 Mar 1;31(5):799. doi: 10.1093/bioinformatics/btu765. Epub 2014 Dec 8. Bioinformatics. 2015. PMID: 25488928 No abstract available.
The genomic birthday paradox: how much is enough?
Krawitz P, Buske O, Zhu N, Brudno M, Robinson PN. Krawitz P, et al. Among authors: brudno m. Hum Mutat. 2015 Oct;36(10):989-97. doi: 10.1002/humu.22848. Epub 2015 Aug 20. Hum Mutat. 2015. PMID: 26239817
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. Buske OJ, et al. Among authors: brudno m. Hum Mutat. 2015 Oct;36(10):931-40. doi: 10.1002/humu.22851. Epub 2015 Aug 31. Hum Mutat. 2015. PMID: 26251998 Free PMC article.
200 results