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Author/Creator Stefansson, Kari

2. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Issue 1 (December 2018)

Authors:
Arnadottir, Gudny; Norddahl, Gudmundur; Gudmundsdottir, Steinunn; Agustsdottir, Arna; Sigurdsson, Snaevar; Jensson, Brynjar; Bjarnadottir, Kristbjorg; Theodors, Fannar; Benonisdottir, Stefania; Ivarsdottir, Erna; Oddsson, Asmundur; Kristjansson, Ragnar; Sulem, Gerald; Alexandersson, Kristjan; Jul...
Journal:
Nature communications
Issue:
Volume 9:Issue 1(2018)
Page Start:
1
Record Type:
Journal Article
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3. A large-scale genome-wide association study meta-analysis of cannabis use disorder. (December 2020)

Authors:
Johnson, Emma C; Demontis, Ditte; Thorgeirsson, Thorgeir E; Walters, Raymond K; Polimanti, Renato; Hatoum, Alexander S; Sanchez-Roige, Sandra; Paul, Sarah E; Wendt, Frank R; Clarke, Toni-Kim; Lai, Dongbing; Reginsson, Gunnar W; Zhou, Hang; He, June; Baranger, David A A; Gudbjartsson, Daniel F; We...
Journal:
Lancet
Issue:
Volume 7:Number 12(2020)
Page Start:
1032
Record Type:
Journal Article
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4. A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip. Issue 12 (29th August 2013)

Authors:
Evangelou, Evangelos; Kerkhof, Hanneke J; Styrkarsdottir, Unnur; Ntzani, Evangelia E; Bos, Steffan D; Esko, Tonu; Evans, Daniel S; Metrustry, Sarah; Panoutsopoulou, Kalliope; Ramos, Yolande F M; Thorleifsson, Gudmar; Tsilidis, Konstantinos K; Arden, Nigel; Aslam, Nadim; Bellamy, Nicholas; Birrell...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 73:Issue 12(2014)
Page Start:
2130
Record Type:
Journal Article
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5. A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam. Issue 6 (1st April 2022)

Authors:
Campbell, Ciarán; McCormack, Mark; Patel, Sonn; Stapleton, Caragh; Bobbili, Dheeraj; Krause, Roland; Depondt, Chantal; Sills, Graeme J.; Koeleman, Bobby P.; Striano, Pasquale; Zara, Federico; Sander, Josemir W.; Lerche, Holger; Kunz, Wolfram S.; Stefansson, Kari; Stefansson, Hreinn; Doherty,...
Journal:
Epilepsia
Issue:
Volume 63:Issue 6(2022)
Page Start:
1563
Record Type:
Journal Article
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6. A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. (24th March 2018)

Authors:
Bjornsson, Thorsteinn; Thorolfsdottir, Rosa B; Sveinbjornsson, Gardar; Sulem, Patrick; Norddahl, Gudmundur L; Helgadottir, Anna; Gretarsdottir, Solveig; Magnusdottir, Audur; Danielsen, Ragnar; Sigurdsson, Emil L; Adalsteinsdottir, Berglind; Gunnarsson, Sverrir I; Jonsdottir, Ingileif; Arnar, Davi...
Journal:
European heart journal
Issue:
Volume 39:Number 34(2018)
Page Start:
3243
Record Type:
Journal Article
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7. Assessment of Osteoarthritis Candidate Genes in a Meta‐Analysis of Nine Genome‐Wide Association Studies. Issue 4 (April 2014)

Authors:
Rodriguez‐Fontenla, Cristina; Calaza, Manuel; Evangelou, Evangelos; Valdes, Ana M.; Arden, Nigel; Blanco, Francisco J.; Carr, Andrew; Chapman, Kay; Deloukas, Panos; Doherty, Michael; Esko, Tõnu; Garcés Aletá, Carlos M.; Gomez‐Reino Carnota, Juan J.; Helgadottir, Hafdis; Hofman, Albert; Jonsdottir...
Journal:
Arthritis & rheumatology
Issue:
Volume 66:Issue 4(2014)
Page Start:
940
Record Type:
Journal Article
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8. Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin. (14th May 2018)

Authors:
Rafnar, Thorunn; Sigurjonsdottir, Gudbjorg R; Stacey, Simon N; Halldorsson, Gisli; Sulem, Patrick; Pardo, Luba M; Helgason, Hannes; Sigurdsson, Stefan T; Gudjonsson, Thorkell; Tryggvadottir, Laufey; Olafsdottir, Gudridur H; Jonasson, Jon G; Alexiusdottir, Kristin; Sigurdsson, Asgeir; Gudmundsson,...
Journal:
Journal of the National Cancer Institute
Issue:
Volume 110:Number 9(2018)
Page Start:
967
Record Type:
Journal Article
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9. Author Correction: The rate of meiotic gene conversion varies by sex and age. (November 2018)

Authors:
Halldorsson, Bjarni; Hardarson, Marteinn; Kehr, Birte; Styrkarsdottir, Unnur; Gylfason, Arnaldur; Thorleifsson, Gudmar; Zink, Florian; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sulem, Patrick; Masson, Gisli; Thorsteinsdottir, Unnur; Helgason, Agnar; Kong, Augustine; Gudbjartsson, Daniel; Stefa...
Journal:
Nature genetics
Issue:
Volume 50:Number 11(2018)
Page Start:
1616
Record Type:
Journal Article
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10. Blocking the EP3 receptor for PGE2 with DG-041 decreases thrombosis without impairing haemostatic competence. (9th December 2013)

Authors:
Tilly, Peggy; Charles, Anne-Laure; Ludwig, Sophie; Slimani, Farid; Gross, Sabrina; Meilhac, Olivier; Geny, Bernard; Stefansson, Kari; Gurney, Mark E.; Fabre, Jean-Etienne
Journal:
Cardiovascular research
Issue:
Volume 101:Number 3(2014)
Page Start:
482
Record Type:
Journal Article
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