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Gudmundur A Thorisson
Gudmundur A Thorisson
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The International HapMap project
RA Gibbs, JW Belmont, P Hardenbol, TD Willis, F Yu, H Yang, LY Ch'ang, ...
Nature 426 (6968), 789-796, 2003
62162003
A second generation human haplotype map of over 3.1 million SNPs
KA Frazer, DG Ballinger, DR Cox, DA Hinds, LL Stuve, RA Gibbs, ...
Nature 449 (7164), 851-861, 2007
53822007
A haplotype map of the human genome
International HapMap Consortium Altshuler David altshuler@ molbio. mgh ...
Nature 437 (7063), 1299-1320, 2005
49912005
Genome-wide detection and characterization of positive selection in human populations
PC Sabeti, P Varilly, B Fry, J Lohmueller, E Hostetter, C Cotsapas, X Xie, ...
Nature 449 (7164), 913-918, 2007
22212007
A haplotype map of the human genome
D Altshuler, LD Brooks, A Chakravarti, FS Collins, MJ Daly, P Donnelly, ...
Nature 437, 1299-1320, 2005
11902005
BioMart–biological queries made easy
D Smedley, S Haider, B Ballester, R Holland, D London, G Thorisson, ...
BMC genomics 10 (1), 22, 2009
9702009
The International HapMap project web site
GA Thorisson, AV Smith, L Krishnan, LD Stein
Genome research 15 (11), 1592-1593, 2005
7592005
The SNP Consortium website: past, present and future
GA Thorisson, LD Stein
Nucleic acids research 31 (1), 124-127, 2003
2682003
WormBase: a cross-species database for comparative genomics
TW Harris, R Lee, E Schwarz, K Bradnam, D Lawson, W Chen, D Blasier, ...
Nucleic acids research 31 (1), 133-137, 2003
1542003
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
M Swertz, M Dijkstra, T Adamusiak, J van der Velde, A Kanterakis, E Roos, ...
BMC bioinformatics 11 (Suppl 12), S12, 2010
1312010
Genotype–phenotype databases: challenges and solutions for the post-genomic era
GA Thorisson, J Muilu, AJ Brookes
Nature Reviews Genetics 10 (1), 9-18, 2009
1222009
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
GA Arnadottir, GL Norddahl, S Gudmundsdottir, AB Agustsdottir, ...
Nature Communications 9 (1), 4447, 2018
1012018
The international HapMap project
JW Belmont, P Hardenbol, TD Willis, F Yu, H Yang, LY Ch'Ang, W Huang, ...
Nature, 2003
1012003
The role of a Bioresource Research Impact Factor as an incentive to share human bioresources
A Cambon-Thomsen, GA Thorisson, S Andrieu, G Bertier, M Boeckhout, ...
Nature genetics 43 (6), 503-504, 2011
972011
HGVbaseG2P: a central genetic association database
GA Thorisson, O Lancaster, RC Free, RK Hastings, P Sarmah, D Dash, ...
Nucleic acids research 37 (suppl 1), D797-D802, 2009
882009
Quantifying the use of bioresources for promoting their sharing in scientific research
L Mabile, R Dalgleish, GA Thorisson, M Deschênes, R Hewitt, J Carpenter, ...
GigaScience 2 (1), 7, 2013
552013
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
BO Jensson, S Hansdottir, GA Arnadottir, G Sulem, RP Kristjansson, ...
BMC medical genetics 18, 1-5, 2017
522017
An informatics project and online “Knowledge Centre” supporting modern genotype‐to‐phenotype research
AJ Webb, GA Thorisson, AJ Brookes, GEN2PHEN Consortium
Human mutation 32 (5), 543-550, 2011
442011
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
GA Arnadottir, BO Jensson, SE Marelsson, G Sulem, A Oddsson, ...
BMC medical genetics 18, 1-5, 2017
312017
Observ‐OM and Observ‐TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information
T Adamusiak, H Parkinson, J Muilu, E Roos, KJ van der Velde, ...
Human mutation 33 (5), 867-873, 2012
292012
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