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 | 6325 | 2003 |
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 | 5391 | 2007 |
A haplotype map of the human genome International HapMap Consortium Altshuler David altshuler@ molbio. mgh ... Nature 437 (7063), 1299-1320, 2005 | 4989 | 2005 |
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 | 2234 | 2007 |
A haplotype map of the human genome D Altshuler, LD Brooks, A Chakravarti, FS Collins, MJ Daly, P Donnelly, ... Nature 437, 1299-1320, 2005 | 1196 | 2005 |
BioMart–biological queries made easy D Smedley, S Haider, B Ballester, R Holland, D London, G Thorisson, ... BMC genomics 10 (1), 22, 2009 | 976 | 2009 |
The International HapMap project web site GA Thorisson, AV Smith, L Krishnan, LD Stein Genome research 15 (11), 1592-1593, 2005 | 761 | 2005 |
The SNP Consortium website: past, present and future GA Thorisson, LD Stein Nucleic acids research 31 (1), 124-127, 2003 | 270 | 2003 |
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 | 153 | 2003 |
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 | 133 | 2010 |
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 | 122 | 2009 |
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 | 104 | 2018 |
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 | 96 | 2011 |
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 | 86 | 2009 |
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 | 55 | 2013 |
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 | 52 | 2017 |
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 | 44 | 2011 |
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 | 31 | 2017 |
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 | 29 | 2012 |
Accreditation and attribution in data sharing GA Thorisson Nature Biotechnology 27 (11), 984-985, 2009 | 28 | 2009 |