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

by Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
Published 2017-10-01

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

by Unnur Styrkarsdottir, Gudmar Thorleifsson, Sigurjon A. Gudjonsson, Asgeir Sigurdsson, Jacqueline R. Center, Seung Hun Lee, Tuan V. Nguyen, Timothy C.Y. Kwok, Jenny S.W. Lee, Suzanne C. Ho, Jean Woo, Ping-C. Leung, Beom-Jun Kim, Thorunn Rafnar, Lambertus A. Kiemeney, Thorvaldur Ingvarsson, Jung-Min Koh, Nelson L.S. Tang, John A. Eisman, Claus Christiansen, Gunnar Sigurdsson, Unnur Thorsteinsdottir, Kari Stefansson
Published 2016-01-01

Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA

by Julius Gudmundsson, Jon K. Sigurdsson, Lilja Stefansdottir, Bjarni A. Agnarsson, Helgi J. Isaksson, Olafur A. Stefansson, Sigurjon A. Gudjonsson, Daniel F. Gudbjartsson, Gisli Masson, Michael L. Frigge, Simon N. Stacey, Patrick Sulem, Gisli H. Halldorsson, Vinicius Tragante, Hilma Holm, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Thorvaldur Jonsson, Eirikur Jonsson, Rosa B. Barkardottir, Rafn Hilmarsson, Folkert W. Asselbergs, Gudmundur Geirsson, Unnur Thorsteinsdottir, Thorunn Rafnar, Gudmar Thorleifsson, Kari Stefansson
Published 2018-11-01

Epigenetic and genetic components of height regulation

by Stefania Benonisdottir, Asmundur Oddsson, Agnar Helgason, Ragnar P. Kristjansson, Gardar Sveinbjornsson, Arna Oskarsdottir, Gudmar Thorleifsson, Olafur B. Davidsson, Gudny A. Arnadottir, Gerald Sulem, Brynjar O. Jensson, Hilma Holm, Kristjan F. Alexandersson, Laufey Tryggvadottir, G. Bragi Walters, Sigurjon A. Gudjonsson, Lucas D. Ward, Jon K. Sigurdsson, Paul D. Iordache, Michael L. Frigge, Thorunn Rafnar, Augustine Kong, Gisli Masson, Hannes Helgason, Unnur Thorsteinsdottir, Daniel F. Gudbjartsson, Patrick Sulem, Kari Stefansson
Published 2016-11-01

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

by Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Gudmundsdottir, Arna B. Agustsdottir, Snaevar Sigurdsson, Brynjar O. Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V. Ivarsdottir, Asmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, Jona Saemundsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Paolo Manzanillo, Sigurjon A. Gudjonsson, Gudmundur A. Thorisson, Olafur Th. Magnusson, Gisli Masson, Kjartan B. Orvar, Hilma Holm, Sigurdur Bjornsson, Reynir Arngrimsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Asgeir Haraldsson, Patrick Sulem, Kari Stefansson
Published 2018-10-01

A genome-wide association study yields five novel thyroid cancer risk loci

by Julius Gudmundsson, Gudmar Thorleifsson, Jon K. Sigurdsson, Lilja Stefansdottir, Jon G. Jonasson, Sigurjon A. Gudjonsson, Daniel F. Gudbjartsson, Gisli Masson, Hrefna Johannsdottir, Gisli H. Halldorsson, Simon N. Stacey, Hannes Helgason, Patrick Sulem, Leigha Senter, Huiling He, Sandya Liyanarachchi, Matthew D. Ringel, Esperanza Aguillo, Angeles Panadero, Enrique Prats, Almudena Garcia-Castaño, Ana De Juan, Fernando Rivera, Li Xu, Lambertus A. Kiemeney, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Hoskuldur Kristvinsson, Romana T. Netea-Maier, Thorvaldur Jonsson, Jose I. Mayordomo, Theo S. Plantinga, Hannes Hjartarson, Jon Hrafnkelsson, Erich M. Sturgis, Unnur Thorsteinsdottir, Thorunn Rafnar, Albert de la Chapelle, Kari Stefansson
Published 2017-02-01

Author Correction: Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

by Gyda Bjornsdottir, Lilja Stefansdottir, Gudmar Thorleifsson, Patrick Sulem, Kristjan Norland, Egil Ferkingstad, Asmundur Oddsson, Florian Zink, Sigrun H. Lund, Muhammad S. Nawaz, G. Bragi Walters, Astros Th. Skuladottir, Sigurjon A. Gudjonsson, Gudmundur Einarsson, Gisli H. Halldorsson, Valgerdur Bjarnadottir, Gardar Sveinbjornsson, Anna Helgadottir, Unnur Styrkarsdottir, Larus J. Gudmundsson, Ole B. Pedersen, Thomas Folkmann Hansen, Thomas Werge, Karina Banasik, Anders Troelsen, Soren T. Skou, Lise Wegner Thørner, Christian Erikstrup, Kaspar Rene Nielsen, Susan Mikkelsen, DBDS Genetic Consortium, GO Consortium, Ingileif Jonsdottir, Aron Bjornsson, Ingvar H. Olafsson, Elfar Ulfarsson, Josep Blondal, Arnor Vikingsson, Soren Brunak, Sisse R. Ostrowski, Henrik Ullum, Unnur Thorsteinsdottir, Hreinn Stefansson, Daniel F. Gudbjartsson, Thorgeir E. Thorgeirsson, Kari Stefansson
Published 2022-04-01

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology

by Gyda Bjornsdottir, Lilja Stefansdottir, Gudmar Thorleifsson, Patrick Sulem, Kristjan Norland, Egil Ferkingstad, Asmundur Oddsson, Florian Zink, Sigrun H. Lund, Muhammad S. Nawaz, G. Bragi Walters, Astros Th. Skuladottir, Sigurjon A. Gudjonsson, Gudmundur Einarsson, Gisli H. Halldorsson, Valgerdur Bjarnadottir, Gardar Sveinbjornsson, Anna Helgadottir, Unnur Styrkarsdottir, Larus J. Gudmundsson, Ole B. Pedersen, Thomas Folkmann Hansen, Thomas Werge, Karina Banasik, Anders Troelsen, Soren T. Skou, Lise Wegner Thørner, Christian Erikstrup, Kaspar Rene Nielsen, Susan Mikkelsen, DBDS Genetic Consortium, GO Consortium, Ingileif Jonsdottir, Aron Bjornsson, Ingvar H. Olafsson, Elfar Ulfarsson, Josep Blondal, Arnor Vikingsson, Soren Brunak, Sisse R. Ostrowski, Henrik Ullum, Unnur Thorsteinsdottir, Hreinn Stefansson, Daniel F. Gudbjartsson, Thorgeir E. Thorgeirsson, Kari Stefansson
Published 2022-02-01

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.

by Simon N Stacey, Patrick Sulem, Carlo Zanon, Sigurjon A Gudjonsson, Gudmar Thorleifsson, Agnar Helgason, Aslaug Jonasdottir, Soren Besenbacher, Jelena P Kostic, James D Fackenthal, Dezheng Huo, Clement Adebamowo, Temidayo Ogundiran, Janet E Olson, Zachary S Fredericksen, Xianshu Wang, Maxime P Look, Anieta M Sieuwerts, John W M Martens, Isabel Pajares, Maria D Garcia-Prats, Jose M Ramon-Cajal, Ana de Juan, Angeles Panadero, Eugenia Ortega, Katja K H Aben, Sita H Vermeulen, Fatemeh Asadzadeh, K C Anton van Engelenburg, Sara Margolin, Chen-Yang Shen, Pei-Ei Wu, Asta Försti, Per Lenner, Roger Henriksson, Robert Johansson, Kerstin Enquist, Göran Hallmans, Thorvaldur Jonsson, Helgi Sigurdsson, Kristin Alexiusdottir, Julius Gudmundsson, Asgeir Sigurdsson, Michael L Frigge, Larus Gudmundsson, Kristleifur Kristjansson, Bjarni V Halldorsson, Unnur Styrkarsdottir, Jeffrey R Gulcher, Kari Hemminki, Annika Lindblom, Lambertus A Kiemeney, Jose I Mayordomo, John A Foekens, Fergus J Couch, Olufunmilayo I Olopade, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Thorunn Rafnar, Oskar T Johannsson, Kari Stefansson
Published 2010-07-01

Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

by Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson
Published 2023-07-01

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality

by Asmundur Oddsson, Patrick Sulem, Gardar Sveinbjornsson, Gudny A. Arnadottir, Valgerdur Steinthorsdottir, Gisli H. Halldorsson, Bjarni A. Atlason, Gudjon R. Oskarsson, Hannes Helgason, Henriette Svarre Nielsen, David Westergaard, Juha M. Karjalainen, Hildigunnur Katrinardottir, Run Fridriksdottir, Brynjar O. Jensson, Vinicius Tragante, Egil Ferkingstad, Hakon Jonsson, Sigurjon A. Gudjonsson, Doruk Beyter, Kristjan H. S. Moore, Helga B. Thordardottir, Snaedis Kristmundsdottir, Olafur A. Stefansson, Solbritt Rantapää-Dahlqvist, Ida Elken Sonderby, Maria Didriksen, Pernilla Stridh, Jan Haavik, Laufey Tryggvadottir, Oleksandr Frei, G. Bragi Walters, Ingrid Kockum, Henrik Hjalgrim, Thorunn A. Olafsdottir, Geir Selbaek, Mette Nyegaard, Christian Erikstrup, Thorsten Brodersen, Saedis Saevarsdottir, Tomas Olsson, Kaspar Rene Nielsen, Asgeir Haraldsson, Mie Topholm Bruun, Thomas Folkmann Hansen, DBDS Genomic Consortium, Thora Steingrimsdottir, Rikke Louise Jacobsen, Rolv T. Lie, Srdjan Djurovic, Lars Alfredsson, Aitzkoa Lopez de Lapuente Portilla, Soren Brunak, Pall Melsted, Bjarni V. Halldorsson, Jona Saemundsdottir, Olafur Th. Magnusson, Leonid Padyukov, Karina Banasik, Thorunn Rafnar, Johan Askling, Lars Klareskog, Ole Birger Pedersen, Gisli Masson, Alexandra Havdahl, Bjorn Nilsson, Ole A. Andreassen, Mark Daly, Sisse Rye Ostrowski, Ingileif Jonsdottir, Hreinn Stefansson, Hilma Holm, Agnar Helgason, Unnur Thorsteinsdottir, Kari Stefansson, Daniel F. Gudbjartsson
Published 2023-06-01