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Recommendations for locus-specific databases and their curation.
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT. Cotton RG, et al. Among authors: nebert dw. Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650. Hum Mutat. 2008. PMID: 18157828 Free PMC article.
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.
Cotton RG, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert DW, Verma I, Vihinen M; Members of the Human Genome Variation Society; Human Variome Project Diagnostic Laboratory Working Group. Cotton RG, et al. Among authors: nebert dw. Hum Mutat. 2007 Oct;28(10):931-2. doi: 10.1002/humu.20631. Hum Mutat. 2007. PMID: 17726697
Search for an association between the human CYP1A2 genotype and CYP1A2 metabolic phenotype.
Jiang Z, Dragin N, Jorge-Nebert LF, Martin MV, Guengerich FP, Aklillu E, Ingelman-Sundberg M, Hammons GJ, Lyn-Cook BD, Kadlubar FF, Saldana SN, Sorter M, Vinks AA, Nassr N, von Richter O, Jin L, Nebert DW. Jiang Z, et al. Among authors: nebert dw. Pharmacogenet Genomics. 2006 May;16(5):359-67. doi: 10.1097/01.fpc.0000204994.99429.46. Pharmacogenet Genomics. 2006. PMID: 16609368
524 results