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408 results
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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.
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
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.
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.
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
Is there treatment for "genetic" disease?
Scriver CR, Treacy EP. Scriver CR, et al. Mol Genet Metab. 1999 Oct;68(2):93-102. doi: 10.1006/mgme.1999.2907. Mol Genet Metab. 1999. PMID: 10527662 Review. No abstract available.
408 results