Semantically enabling a genome-wide association study database

por Beck, Tim, Free, Robert C, Thorisson, Gudmundur A, Brookes, Anthony J
Publicado 2012

BioMart – biological queries made easy

por Smedley, Damian, Haider, Syed, Ballester, Benoit, Holland, Richard, London, Darin, Thorisson, Gudmundur, Kasprzyk, Arek
Publicado 2009

HGVbaseG2P: a central genetic association database

por Thorisson, Gudmundur A., Lancaster, Owen, Free, Robert C., Hastings, Robert K., Sarmah, Pallavi, Dash, Debasis, Brahmachari, Samir K., Brookes, Anthony J.
Publicado 2009

Quantifying the use of bioresources for promoting their sharing in scientific research

por 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
Publicado 2013

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

por 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
Publicado 2010

VarioML framework for comprehensive variation data representation and exchange

por 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
Publicado 2012

Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters

por 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
Publicado 2017

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

por 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
Publicado 2017

DanMAC5: a browser of aggregated sequence variants from 8,671 whole genome sequenced Danish individuals

por Banasik, Karina, Møller, Peter L., Techlo, Tanya R., Holm, Peter C., Walters, G. Bragi, Ingason, Andrés, Rosengren, Anders, Rohde, Palle D., Kogelman, Lisette J. A., Westergaard, David, Siggaard, Troels, Chmura, Piotr J., Chalmer, Mona A., Magnússon, Ólafur Þ., Þórisson, Guðmundur Á., Stefánsson, Hreinn, Guðbjartsson, Daníel F., Stefánsson, Kári, Olesen, Jes, Winther, Simon, Bøttcher, Morten, Brunak, Søren, Werge, Thomas, Nyegaard, Mette, Hansen, Thomas F.
Publicado 2023

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences

por 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.
Publicado 2010

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

por 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
Publicado 2018