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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: scriver cr. Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650. Hum Mutat. 2008. PMID: 18157828 Free PMC article.
Proof of "disease causing" mutation.
Cotton RG, Scriver CR. Cotton RG, et al. Among authors: scriver cr. Hum Mutat. 1998;12(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9633813 No abstract available.
Recommendations of the 2006 Human Variome Project meeting.
Cotton RG; 2006 Human Variome Project; Appelbe W, Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody L, Brookes A, Brown AF, Byers P, Cantu JM, Cassiman JJ, Claustres M, Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ, Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M. Cotton RG, et al. Among authors: scriver cr. Nat Genet. 2007 Apr;39(4):433-6. doi: 10.1038/ng2024. Nat Genet. 2007. PMID: 17392799
Human mutation databases.
Cotton RG, Scriver CR. Cotton RG, et al. Among authors: scriver cr. Hum Genomics. 2006 Mar;2(5):272; author reply 272-3. doi: 10.1186/1479-7364-2-5-272. Hum Genomics. 2006. PMID: 16595071 Free PMC article. No abstract available.
PhenCode: connecting ENCODE data with mutations and phenotype.
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC. Giardine B, et al. Hum Mutat. 2007 Jun;28(6):554-62. doi: 10.1002/humu.20484. Hum Mutat. 2007. PMID: 17326095
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. Scriver CR, et al. Hum Mutat. 2003 Apr;21(4):333-44. doi: 10.1002/humu.10200. Hum Mutat. 2003. PMID: 12655543 Review.
The HUGO Mutation Database Initiative.
Cotton RG, McKusick V, Scriver CR. Cotton RG, et al. Among authors: scriver cr. Science. 1998 Jan 2;279(5347):10-1. doi: 10.1126/science.279.5347.10c. Science. 1998. PMID: 9441394 No abstract available.
PAHdb: a locus-specific knowledgebase.
Scriver CR, Waters PJ, Sarkissian C, Ryan S, Prevost L, Côté D, Novak J, Teebi S, Nowacki PM. Scriver CR, et al. Hum Mutat. 2000;15(1):99-104. doi: 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P. Hum Mutat. 2000. PMID: 10612829
402 results