A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
Arnadottir, Gudny A., Norddahl, Gudmundur L., Gudmundsdottir, Steinunn, Agustsdottir, Arna B., Sigurdsson, Snaevar, Jensson, Brynjar O., Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V., Oddsson, Asmundur, Kristjansson, Ragnar P., Sulem, Gerald, Alexandersson, Kristjan F., Juliusdottir, Thorhildur, Gudmundsson, Kjartan R., Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Magnusson, Olafur Th, Masson, Gisli, Orvar, Kjartan B., Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F., Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari
Published in Nature communications (25.10.2018)
Published in Nature communications (25.10.2018)
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Journal Article
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Jensson, Brynjar O, Hansdottir, Sif, Arnadottir, Gudny A, Sulem, Gerald, Kristjansson, Ragnar P, Oddsson, Asmundur, Benonisdottir, Stefania, Jonsson, Hakon, Helgason, Agnar, Saemundsdottir, Jona, Magnusson, Olafur T, Masson, Gisli, Thorisson, Gudmundur A, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonsdottir, Ingileif, Petursdottir, Vigdis, Kristinsson, Jon R, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Gudmundsson, Gunnar, Stefansson, Kari
Published in BMC medical genetics (14.11.2017)
Published in BMC medical genetics (14.11.2017)
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Journal Article
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
Swertz, Morris A, Dijkstra, Martijn, Adamusiak, Tomasz, van der Velde, Joeri K, Kanterakis, Alexandros, Roos, Erik T, Lops, Joris, Thorisson, Gudmundur A, Arends, Danny, Byelas, George, Muilu, Juha, Brookes, Anthony J, de Brock, Engbert O, Jansen, Ritsert C, Parkinson, Helen
Published in BMC bioinformatics (21.12.2010)
Published in BMC bioinformatics (21.12.2010)
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Journal Article
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Arnadottir, Gudny A, Jensson, Brynjar O, Marelsson, Sigurdur E, Sulem, Gerald, Oddsson, Asmundur, Kristjansson, Ragnar P, Benonisdottir, Stefania, Gudjonsson, Sigurjon A, Masson, Gisli, Thorisson, Gudmundur A, Saemundsdottir, Jona, Magnusson, Olafur Th, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Arngrimsson, Reynir, Sulem, Patrick, Stefansson, Kari
Published in BMC medical genetics (02.10.2017)
Published in BMC medical genetics (02.10.2017)
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Journal Article
VarioML framework for comprehensive variation data representation and exchange
Byrne, Myles, Fokkema, Ivo Fac, Lancaster, Owen, Adamusiak, Tomasz, Ahonen-Bishopp, Anni, Atlan, David, Béroud, Christophe, Cornell, Michael, Dalgleish, Raymond, Devereau, Andrew, Patrinos, George P, Swertz, Morris A, Taschner, Peter Em, Thorisson, Gudmundur A, Vihinen, Mauno, Brookes, Anthony J, Muilu, Juha
Published in BMC bioinformatics (03.10.2012)
Published in BMC bioinformatics (03.10.2012)
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Journal Article
The International HapMap Project Web site
Thorisson, Gudmundur A, Smith, Albert V, Krishnan, Lalitha, Stein, Lincoln D
Published in Genome research (01.11.2005)
Published in Genome research (01.11.2005)
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Journal Article
Semantically enabling a genome-wide association study database
Beck, Tim, Free, Robert C, Thorisson, Gudmundur A, Brookes, Anthony J
Published in Journal of biomedical semantics (17.12.2012)
Published in Journal of biomedical semantics (17.12.2012)
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Journal Article
Genotype-phenotype databases: challenges and solutions for the post-genomic era
Brookes, Anthony J, Thorisson, Gudmundur A, Muilu, Juha
Published in Nature reviews. Genetics (01.01.2009)
Published in Nature reviews. Genetics (01.01.2009)
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Journal Article
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease
Saevarsdottir, Saedis, Bjarnadottir, Kristbjörg, Markusson, Thorsteinn, Berglund, Jonas, Olafsdottir, Thorunn A., Halldorsson, Gisli H., Rutsdottir, Gudrun, Gunnarsdottir, Kristbjorg, Arnthorsson, Asgeir Orn, Lund, Sigrun H., Stefansdottir, Lilja, Gudmundsson, Julius, Johannesson, Ari J., Sturluson, Arni, Oddsson, Asmundur, Halldorsson, Bjarni, Ludviksson, Björn R., Ferkingstad, Egil, Ivarsdottir, Erna V., Sveinbjornsson, Gardar, Grondal, Gerdur, Masson, Gisli, Eldjarn, Grimur Hjorleifsson, Thorisson, Gudmundur A., Kristjansdottir, Katla, Knowlton, Kirk U., Moore, Kristjan H. S., Gudjonsson, Sigurjon A., Rognvaldsson, Solvi, Knight, Stacey, Nadauld, Lincoln D., Holm, Hilma, Magnusson, Olafur T., Sulem, Patrick, Gudbjartsson, Daniel F., Rafnar, Thorunn, Thorleifsson, Gudmar, Melsted, Pall, Norddahl, Gudmundur L., Jonsdottir, Ingileif, Stefansson, Kari
Published in Nature communications (09.07.2024)
Published in Nature communications (09.07.2024)
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Journal Article
An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research
Webb, Adam J., Thorisson, Gudmundur A., Brookes, Anthony J.
Published in Human mutation (01.05.2011)
Published in Human mutation (01.05.2011)
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Journal Article
The role of a bioresource research impact factor as an incentive to share human bioresources
Cambon-Thomsen, Anne, Thorisson, Gudmundur A, Mabile, Laurence
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
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Journal Article
HGVbaseG2P: a central genetic association database
Thorisson, Gudmundur A, Lancaster, Owen, Free, Robert C, Hastings, Robert K, Sarmah, Pallavi, Dash, Debasis, Brahmachari, Samir K, Brookes, Anthony J
Published in Nucleic acids research (01.01.2009)
Published in Nucleic acids research (01.01.2009)
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Journal Article
Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information
Adamusiak, Tomasz, Parkinson, Helen, Muilu, Juha, Roos, Erik, van der Velde, Kasper Joeri, Thorisson, Gudmundur A., Byrne, Myles, Pang, Chao, Gollapudi, Sirisha, Ferretti, Vincent, Hillege, Hans, Brookes, Anthony J., Swertz, Morris A.
Published in Human mutation (01.05.2012)
Published in Human mutation (01.05.2012)
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Journal Article
Quantifying the use of bioresources for promoting their sharing in scientific research
Mabile, Laurence, Dalgleish, Raymond, Thorisson, Gudmundur A, Deschênes, Mylène, Hewitt, Robert, Carpenter, Jane, Bravo, Elena, Filocamo, Mirella, Gourraud, Pierre Antoine, Harris, Jennifer R, Hofman, Paul, Kauffmann, Francine, Muñoz-Fernàndez, Maria Angeles, Pasterk, Markus, Cambon-Thomsen, Anne
Published in Gigascience (01.05.2013)
Published in Gigascience (01.05.2013)
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Journal Article
The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation
Brookes, Anthony J., Lehvaslaiho, Heikki, Muilu, Juha, Shigemoto, Yasumasa, Oroguchi, Takashige, Tomiki, Takeshi, Mukaiyama, Atsuhiro, Konagaya, Akihiko, Kojima, Toshio, Inoue, Ituro, Kuroda, Masako, Mizushima, Hiroshi, Thorisson, Gudmundur A., Dash, Debasis, Rajeevan, Haseena, Darlison, Matthew W., Woon, Mark, Fredman, David, Smith, Albert V., Senger, Martin, Naito, Kimitoshi, Sugawara, Hideaki
Published in Human mutation (01.06.2009)
Published in Human mutation (01.06.2009)
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Journal Article
The International HapMap Project Web site: Figure 1
Thorisson, Gudmundur A., Smith, Albert V., Krishnan, Lalitha, Stein, Lincoln D.
Published in Genome research (01.11.2005)
Published in Genome research (01.11.2005)
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Journal Article
Finding and sharing: new approaches to registries of databases and services for the biomedical sciences
Smedley, Damian, Schofield, Paul, Chen, Chao-Kung, Aidinis, Vassilis, Ainali, Chrysanthi, Bard, Jonathan, Balling, Rudi, Birney, Ewan, Blake, Andrew, Bongcam-Rudloff, Erik, Brookes, Anthony J, Cesareni, Gianni, Chandras, Christina, Eppig, Janan, Flicek, Paul, Gkoutos, Georgios, Greenaway, Simon, Gruenberger, Michael, Hériché, Jean-Karim, Lyall, Andrew, Mallon, Ann-Marie, Muddyman, Dawn, Reisinger, Florian, Ringwald, Martin, Rosenthal, Nadia, Schughart, Klaus, Swertz, Morris, Thorisson, Gudmundur A, Zouberakis, Michael, Hancock, John M
Published in Database : the journal of biological databases and curation (01.01.2010)
Published in Database : the journal of biological databases and curation (01.01.2010)
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Journal Article
Actionable Genotypes and Their Association with Life Span in Iceland
Jensson, Brynjar O., Arnadottir, Gudny A., Katrinardottir, Hildigunnur, Fridriksdottir, Run, Helgason, Hannes, Oddsson, Asmundur, Sveinbjornsson, Gardar, Eggertsson, Hannes P., Halldorsson, Gisli H., Atlason, Bjarni A., Jonsson, Hakon, Oskarsson, Gudjon R., Sturluson, Arni, Gudjonsson, Sigurjon A., Thorisson, Gudmundur A., Zink, Florian, Moore, Kristjan H.S., Palsson, Gunnar, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Magnusson, Magnus K., Helgadottir, Anna, Steinthorsdottir, Valgerdur, Gudmundsson, Julius, Stacey, Simon N., Hilmarsson, Rafn, Olafsson, Isleifur, Johannsson, Oskar T., Arnar, David O., Saemundsdottir, Jona, Magnusson, Olafur T., Masson, Gisli, Halldorsson, Bjarni V., Helgason, Agnar, Stefansson, Hreinn, Jonsdottir, Ingileif, Holm, Hilma, Rafnar, Thorunn, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Kari, Sulem, Patrick
Published in The New England journal of medicine (09.11.2023)
Published in The New England journal of medicine (09.11.2023)
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Journal Article