Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

289 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clarity and claims in variation/mutation databasing.
Dalgleish R, Oetting WS, Auerbach AD, Beckmann JS, Cambon-Thomsen A, Devereau A, Greenblatt MS, Patrinos GP, Taylor GR, Vihinen M, Brookes AJ. Dalgleish R, et al. Among authors: vihinen m. Nat Biotechnol. 2011 Sep 8;29(9):790-2; author reply 792-4. doi: 10.1038/nbt.1961. Nat Biotechnol. 2011. PMID: 21904316 No abstract available.
Mutation (variation) databases and registries: a rationale for coordination of efforts.
Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C. Auerbach AD, et al. Among authors: vihinen m. Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1. Nat Rev Genet. 2011. PMID: 22025002 No abstract available.
VarioML framework for comprehensive variation data representation and exchange.
Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J. Byrne M, et al. Among authors: vihinen m. BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254. BMC Bioinformatics. 2012. PMID: 23031277 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 Va… See abstract for full author list ➔ 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.
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.
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Béroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Möslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG; Human Variome Project Meeting. Kohonen-Corish MR, et al. Among authors: vihinen m. Hum Mutat. 2010 Dec;31(12):1374-81. doi: 10.1002/humu.21379. Hum Mutat. 2010. PMID: 20960468 Free PMC article.
Human Variome Project country nodes: documenting genetic information within a country.
Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council. Patrinos GP, et al. Among authors: vihinen m. Hum Mutat. 2012 Nov;33(11):1513-9. doi: 10.1002/humu.22147. Epub 2012 Jul 18. Hum Mutat. 2012. PMID: 22753370
289 results