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VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma GC, Vihinen M. Schaafsma GC, et al. Among authors: vihinen m. Hum Mutat. 2016 Apr;37(4):344-9. doi: 10.1002/humu.22954. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26773573
BTKbase: the mutation database for X-linked agammaglobulinemia.
Väliaho J, Smith CI, Vihinen M. Väliaho J, et al. Among authors: vihinen m. Hum Mutat. 2006 Dec;27(12):1209-17. doi: 10.1002/humu.20410. Hum Mutat. 2006. PMID: 16969761 Review.
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J, Vihinen M. Thusberg J, et al. Among authors: vihinen m. Hum Mutat. 2006 Dec;27(12):1230-43. doi: 10.1002/humu.20407. Hum Mutat. 2006. PMID: 16986121
Immunodeficiency mutation databases (IDbases).
Piirilä H, Väliaho J, Vihinen M. Piirilä H, et al. Among authors: vihinen m. Hum Mutat. 2006 Dec;27(12):1200-8. doi: 10.1002/humu.20405. Hum Mutat. 2006. PMID: 17004234 Review.
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. Among authors: vihinen m. Hum Mutat. 2007 Jun;28(6):554-62. doi: 10.1002/humu.20484. Hum Mutat. 2007. PMID: 17326095
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: vihinen m. Hum Mutat. 2008 Jan;29(1):2-5. doi: 10.1002/humu.20650. Hum Mutat. 2008. PMID: 18157828 Free PMC article.
Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: proposed guidelines for improving data collection, distribution, and integration.
Olivier M, Petitjean A, Teague J, Forbes S, Dunnick JK, den Dunnen JT, Langerød A, Wilkinson JM, Vihinen M, Cotton RG, Hainaut P; IARC; EC FP6. Olivier M, et al. Among authors: vihinen m. Hum Mutat. 2009 Mar;30(3):275-82. doi: 10.1002/humu.20832. Hum Mutat. 2009. PMID: 19006239
Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
Thusberg J, Vihinen M. Thusberg J, et al. Among authors: vihinen m. Hum Mutat. 2009 May;30(5):703-14. doi: 10.1002/humu.20938. Hum Mutat. 2009. PMID: 19267389 Review.
Sharing data between LSDBs and central repositories.
den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S, Talbot CC Jr, Hardison RC, Povey S, Cotton RG. den Dunnen JT, et al. Among authors: vihinen m. Hum Mutat. 2009 Apr;30(4):493-5. doi: 10.1002/humu.20977. Hum Mutat. 2009. PMID: 19306393 Free PMC article.
Planning the human variome project: the Spain report.
Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blöcker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Möslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Töpel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting. Kaput J, et al. Among authors: vihinen m. Hum Mutat. 2009 Apr;30(4):496-510. doi: 10.1002/humu.20972. Hum Mutat. 2009. PMID: 19306394 Free PMC article.
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