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Diagnostic interpretation of array data using public databases and internet sources.
de Leeuw N, Dijkhuizen T, Hehir-Kwa JY, Carter NP, Feuk L, Firth HV, Kuhn RM, Ledbetter DH, Martin CL, van Ravenswaaij-Arts CM, Scherer SW, Shams S, Van Vooren S, Sijmons R, Swertz M, Hastings R. de Leeuw N, et al. Among authors: firth hv. Hum Mutat. 2012 Jun;33(6):930-40. doi: 10.1002/humu.22049. Hum Mutat. 2012. PMID: 26285306 Free PMC article.
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Shaw-Smith C, et al. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. J Med Genet. 2004. PMID: 15060094 Free PMC article.
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
Vermeesch JR, Fiegler H, de Leeuw N, Szuhai K, Schoumans J, Ciccone R, Speleman F, Rauch A, Clayton-Smith J, Van Ravenswaaij C, Sanlaville D, Patsalis PC, Firth H, Devriendt K, Zuffardi O. Vermeesch JR, et al. Eur J Hum Genet. 2007 Nov;15(11):1105-14. doi: 10.1038/sj.ejhg.5201896. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637806 Review.
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, den Dunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RG; Ethics Committee of the Human Genome Organization (HUGO). Povey S, et al. Among authors: firth hv. Hum Mutat. 2010 Nov;31(11):1179-84. doi: 10.1002/humu.21339. Hum Mutat. 2010. PMID: 20683926 Free PMC article.
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: firth hv. 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.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, King DA, Ambridge K, Barrett DM, Bayzetinova T, Bevan AP, Bragin E, Chatzimichali EA, Gribble S, Jones P, Krishnappa N, Mason LE, Miller R, Morley KI, Parthiban V, Prigmore E, Rajan D, Sifrim A, Swaminathan GJ, Tivey AR, Middleton A, Parker M, Carter NP, Barrett JC, Hurles ME, FitzPatrick DR, Firth HV; DDD study. Wright CF, et al. Among authors: firth hv. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. Lancet. 2015. PMID: 25529582 Free PMC article.
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: firth hv. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
156 results