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Kāri Stefánsson

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219H-index
1.2KPaper Count
21.1WCitation Count
Published Papers 527
Publication Date
Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders
err2026-07-20
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errFabian Streit; Swapnil Awasthi; Alisha S. M. Hall; Alice Braun; Maria Niarchou; Eirini Marouli; Oladapo Babajide; Josef Frank; Lea Zillich; Carolin M. Callies; Diana Avetyan; Eric Zillich; Joonas Naamanka; Jean Gonzalez; Arvid Harder; Yi Lu; Zouhair Aherrahrou; Zain-Ul-Abideen Ahmad; Helga Ask; Anthony Batzler; Michael E. Benros; Odette M. Brand-de Wilde; Søren Brunak; Mie T. Bruun; Lea A. N. Christoffersen; Lucía Colodro-Conde; Brandon J. Coombes; Elizabeth C. Corfield; Norbert Dahmen; Maria Didriksen; Khoa M. Dinh; Srdjan Djurovic; Joseph Dowsett; Ole Kristian Drange; Helene Dukal; Susanne Edelmann; Christian Erikstrup; Mariana K. Espinola; Eva Fassbinder; Annika Faucon; Diana S. Ferreira de Sá; Jerome C. Foo; Maria Gilles; Alfonso Gutiérrez-Zotes; Thomas F. Hansen; Magnus Haraldsson; R. Patrick Harper; Alexandra Havdahl; Urs Heilbronner; Stefan Herms; Henrik Hjalgrim; Christopher Hübel; Gitta A. Jacob; Bitten Aagaard; Anders Jorgensen; Martin Jungkunz; Nikolaus Kleindienst; Nora Knoblich; Stefanie Koglin; Julia Kraft; Kristi Krebs; Christopher W. Lee; Yuhao Lin; Stefanie Lis; Amanda Lisoway; Ioannis A. Malogiannis; Amy Martinsen; Tolou Maslahati; Katharina Merz; Andreas Meyer-Lindenberg; Susan Mikkelsen; Christina Mikkelsen; Arian Mobascher; Gerard Muntané; Asmundur Oddsson; Sisse R. Ostrowski; Teemu Palviainen; Ole B. V. Pedersen; Geir Pedersen; Liam Quinn; Matthias A. Reinhard; Florian A. Ruths; Björn H. Schott; Michael Schredl; Emanuel Schwarz; Cornelia E. Schwarze; Michael Schwinn; Tabea Sarah Send; Engilbert Sigurdsson; Katja Simon-Keller; Astros T. Skuladottir; Joaquim Soler; Anne Sonley; Erik Sørensen; Hreinn Stefansson; Peter Straub; Jaana Suvisaari; Martin Tesli; Jacob Træholt; Henrik Ullum; Maja P. Völker; G. Bragi Walters; Rujia Wang; Christian C. Witt; Gerhard Zarbock; Peter Zill; John-Anker Zwart; Ole A. Andreassen; Arnoud Arntz; Joanna M. Biernacka; Martin Bohus; Gerome Breen; Alexander L. Chapman; Sven Cichon; Lea K. Davis; Michael Deuschle; Sebastian Euler; Sabine C. Herpertz; Benjamin Hummelen; Andrea Jobst; Jaakko Kaprio; James L. Kennedy; Kelli Lehto; Klaus Lieb; Lourdes Martorell; Shelley McMain; Richard Musil; Vanessa Nieratschker; Markus M. Nöthen; Frank Padberg; Aarno Palotie; Juan C. Pascual; Nader Perroud; Josep A. Ramos-Quiroga; Ted Reichborn-Kjennerud; Marta Ribases; Stefan Roepke; Dan Rujescu; Sandra Sanchez-Roige; Claudia Schilling; Christian Schmahl; Kari Stefansson; Thorgeir E. Thorgeirsson; Gustavo Turecki; Elisabet Vilella; Thomas Werge; Bendik S. Winsvold; Johannes Wrege; Marcella Rietschel; Stephan Ripke; Stephanie H. Witt
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Development and validation of a neural network survival prediction model for ischemic heart disease
err2026-01-28
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errOAAI
errPeter C. Holm; Amalie D. Haue; David Westergaard; Timo Röder; Karina Banasik; Vinicius Tragante; Christian H. Johansen; Alex H. Christensen; Laurent Thomas; Therese H. Nøst; Anne-Heidi Skogholt; Kasper K. Iversen; Frants Pedersen; Dan E. Høfsten; Ole B. Pedersen; Sisse Rye Ostrowski; Henrik Ullum; Mette N. Svendsen; Iben M. Gjødsbøl; Thorarinn Gudnason; Daníel F. Guðbjartsson; Anna Helgadottir; Kristian Hveem; Lars V. Køber; Hilma Holm; Kari Stefansson; Søren Brunak; Henning Bundgaard
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Observational and Mendelian randomization studies of plasma sclerostin levels do not provide evidence of cardiovascular adverse effects of sclerostin inhibition
err2025-12-01
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PREAI
errThorolfsdottir, Rosa B.; Sveinbjornsson, Gardar; Hjorleifsson Eldjarn, Grimur; Aegisdottir, Hildur M.; Styrkarsdottir, Unnur; Gretarsdottir, Solveig; Steinthorsdottir, Valgerdur; Tragante, Vinicius; Oddsson, Asmundur; Stefansdottir, Lilja; Thorleifsson, Gudmar; Einarsson, Gudmundur; Helgason, Hannes; Jonsdottir, Andrea B.; Gudjonsson, Sigurjon A.; Ferkingstad, Egil; Brunak, Soren; Brons, Nanna; Bundgaard, Johan S.; Bruun, Mie T.; Erikstrup, Christian; Aagaard, Bitten; Vesterager Pedersen, Ole B.; Sibilitz, Kirstine L.; Sorensen, Erik; Traeholt, Jacob; Ullum, Henrik; Zheng, Chaoqun; Knowlton, Kirk U.; Nadauld, Lincoln D.; Ostrowski, Sisse R.; Bundgaard, Henning; Arnar, David O.; Jonsdottir, Ingileif; Helgadottir, Anna; Thorsteinsdottir, Unnur; Holm, Hilma; Sulem, Patrick; Gudbjartsson, Daniel F.; Stefansson, Kari
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Genome-wide meta-analyses of non-response to antidepressants provide insights into underlying molecular genetics and suggest potential pharmacotherapies
err2025-11-19
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PREAI
errElise Koch; Tuuli Puusepp; Guðmundur Einarsson; Brittany L. Mitchell; Arvid Harder; Yuhao Lin; Luis M. García-Marín; Kristi Krebs; Alexey A. Shadrin; Ying Xiong; Oleksandr Frei; Yi Lu; Sara Hägg; Miguel E. Rentería; Sarah E. Medland; Naomi R. Wray; Nicholas G. Martin; Christopher Hübel; Gerome Breen; Thorgeir Thorgeirsson; Hreinn Stefánsson; Kári Stefánsson; Kelli Lehto; Lili Milani; Ole A. Andreassen; Kevin S. O’Connell
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African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk
err2025-11-17
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errOAAI
errGudny Ella Thorlacius; Erna V. Ivarsdottir; Saedis Saevarsdottir; Kristjan H. S. Moore; Sigurjon A. Gudjonsson; Bjarni V. Halldorsson; Hilma Holm; Aslaug Jonasdottir; Frosti Jonsson; Snaedis Kristmundsdottir; Gisli Masson; Olafur T. Magnusson; Gudmundur L. Norddahl; Asmundur Oddsson; Thorunn A. Olafsdottir; Pall I. Olason; Aron Skaftason; Lilja Stefansdottir; Arni Sturluson; Unnur Thorsteinsdottir; Gudmar Thorleifsson; Valentin Y. Walker; Florian Zink; Eirikur Steingrimsson; Daniel F. Gudbjartsson; Ingileif Jonsdottir; Agnar Helgason; Patrick Sulem; Kari Stefansson
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Autoantibody-defined subsets of patients with systemic lupus erythematosus associate with clinical manifestations, NCF2, and HLA DR3-DQ2 genotypes.
err2025-11-04
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errHenrik Christian Bidstrup Leffers; Anne Troldborg; Martin Andersen; Ana Cristina Gonzalez Sanchez; Ingileif Jonsdottir; Lina-Marcela Diaz-Gallo; Saedis Saevarsdottir; Bent Deleuran; Anne Voss; Lene Dreyer; Dag Leonard; Elisabet Svenungsson; Salome Kristensen; Ada Colic; Karina Banasik; Asta Linauskas; Ole Birger Pedersen; Laura Johnsen; Niels Steen Krogh; Sisse Rye Ostrowski; Erik Sørensen; Michael Schwinn; Christian Erikstrup; Søren Brunak; Kari Stefansson; Søren Jacobsen
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Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development.
err2025-06-01
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errOAAI
errJonas Ghouse; Helene Gellert-Kristensen; Colm J. O’Rourke; Anne-Sofie Seidelin; Gudmar Thorleifsson; Gardar Sveinbjörnsson; Vinicius Tragante; Chigoziri Konkwo; Joseph Brancale; Silvia Vilarinho; Tim M. Eyrich; Gustav Ahlberg; Johan S. Bundgaard; Søren A. Rand; Pia R. Lundegaard; Erik Sørensen; Christina Mikkelsen; Jacob Træholt; Christian Erikstrup; Khoa M. Dinh; Mie T. Bruun; Bitten Aa. Jensen; Jakob T. Bay; Søren Brunak; Karina Banasik; Henrik Ullum; Triin Laisk; Reedik Mägi; Lincoln D. Nadauld; Kirk U. Knowlton; Stacey Knight; Lise L. Gluud; Kirsten Vistisen; Einar S. Björnsson; Magnus O. Ulfarsson; Patrick Sulem; Hilma Holm; Ole B. Pedersen; Sisse R. Ostrowski; Daniel F. Gudbjartsson; Thorunn Rafnar; Kari Stefansson; Ulrik Lassen; Hans-Christian Pommergaard; Jens G. Hillingsø; Jesper B. Andersen; Henning Bundgaard; Stefan Stender
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Recommendations for defining treatment outcomes in major psychiatric disorders using real-world data
err2025-04-10
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PREAI
errElise Koch; Sophie Smart; Guðmundur Einarsson; Anders Kämpe; Lina Jonsson; Maris Alver; Matthew Iveson; Andreas Göteson; Antonio F Pardiñas; Ida E Sønderby; Kevin S O'Connell; Qingqin Li; Yi Lu; Hreinn Stefánsson; Kári Stefánsson; Heather Whalley; Mikael Landén; Michael C O'Donovan; Knut Smerud; Gerard R Dawson; Ole A Andreassen
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Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study
err2025-02-01
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errUgalde-Morales, Emilio; Wilf, Rona; Pluta, John; Ploner, Alexander; Fan, Mengyao; Damra, Mohammad; Aben, Katja K.; Anson-Cartwright, Lynn; Chen, Chu; Cortessis, Victoria K.; Daneshmand, Siamak; Ferlin, Alberto; Gamulin, Marija; Gietema, Jourik A.; Gonzalez-Niera, Anna; Grotmol, Tom; Hamilton, Robert J.; Harland, Mark; Haugen, Trine B.; Hauser, Russ; Hildebrandt, Michelle A. T.; Karlsson, Robert; Kiemeney, Lambertus A.; Kim, Jung; Lessel, Davor; Lothe, Ragnhild A.; Loveday, Chey; Chanock, Stephen J.; Mcglynn, Katherine A.; Meijer, Coby; Nead, Kevin T.; Nsengimana, Jeremie; Popovic, Maja; Rafnar, Thorunn; Richiardi, Lorenzo; Rocca, Maria S.; Schwartz, Stephen M.; Skotheim, Rolf I.; Stefansson, Kari; Stewart, Douglas R.; Turnbull, Clare; Vaughn, David J.; Winge, Sofia B.; Zheng, Tongzhang; Monteiro, Alvaro N.; Almstrup, Kristian; Kanetsky, Peter A.; Nathanson, Katherine L.; Wiklund, Fredrik
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
err2025-01-01
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errOAAI
errZerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
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Transformers significantly improve splice site prediction (vol 7, 1616, 2024)
err2024-12-18
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errOAAI
errJonsson, Benedikt A.; Halldorsson, Gisli H.; Ardal, Steinthor; Roegnvaldsson, Soelvi; Einarsson, Eythor; Sulem, Patrick; Guobjartsson, Daniel F.; Melsted, Pall; Stefansson, Kari; Ulfarsson, Magnus
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Transformers significantly improve splice site prediction
err2024-12-04
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errJonsson, Benedikt A.; Halldorsson, Gisli H.; Ardal, Steinpor; Rognvaldsson, Solvi; Einarsson, Eypor; Sulem, Patrick; Guobjartsson, Daniel F.; Melsted, Pall; Stefansson, Kari; Ulfarsson, Magnus O.
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Exploring the Genetic Risk of Childhood Daytime Urinary Incontinence: A Genome-Wide Association Study
err2024-12-01
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PREAI
errBreinbjerg, Anders; Jorgensen, Cecilie Siggaard; Walters, G. Bragi; Grove, Jakob; Als, Thomas D.; Kamperis, Konstantinos; Stefansdottir, Lilja; Thirstrup, Janne P.; Borg, Britt; Albinana, Clara; Vilhjalmsson, Bjarni J.; Eovarosson, Vioar O.; Stefansson, Hreinn; Mortensen, Preben B.; Agerbo, Esben; Werge, Thomas; Borglum, Anders; Demontis, Ditte; Stefansson, Kari; Rittig, Soren; Christensen, Jane Hvarregaard
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Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
err2024-10-29
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PREAI
errIvarsdottir, Erna V.; Gudmundsson, Julius; Tragante, Vinicius; Sveinbjornsson, Gardar; Kristmundsdottir, Snaedis; Stacey, Simon N.; Halldorsson, Gisli H.; Magnusson, Magnus I.; Oddsson, Asmundur; Walters, G. Bragi; Sigurdsson, Asgeir; Saevarsdottir, Saedis; Beyter, Doruk; Thorleifsson, Gudmar; Halldorsson, Bjarni V.; Melsted, Pall; Stefansson, Hreinn; Jonsdottir, Ingileif; Sorensen, Erik; Pedersen, Ole B.; Erikstrup, Christian; Bogsted, Martin; Pohl, Mette; Roder, Andreas; Stroomberg, Hein Vincent; Goegenur, Ismail; Hillingso, Jens; Bojesen, Stig E.; Lassen, Ulrik; Hogdall, Estrid; Ullum, Henrik; Brunak, Soren; Ostrowski, Sisse R.; Pedersen, Ole Birger; Sonderby, Ida Elken; Frei, Oleksandr; Djurovic, Srdjan; Havdahl, Alexandra; Moller, Pal; Dominguez-Valentin, Mev; Haavik, Jan; Andreassen, Ole A.; Hovig, Eivind; Agnarsson, Bjarni A.; Hilmarsson, Rafn; Johannsson, Oskar Th.; Valdimarsson, Trausti; Jonsson, Steinn; Moller, Pall H.; Olafsson, Jon H.; Sigurgeirsson, Bardur; Jonasson, Jon G.; Tryggvason, Geir; Holm, Hilma; Sulem, Patrick; Rafnar, Thorunn; Gudbjartsson, Daniel F.; Stefansson, Kari
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Predicting progression from coronary artery disease to heart failure in community cohorts
err2024-10-28
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PREAI
errPilbrow, A. P.; Tragante, V; Cameron, V. A.; Jones, G. T.; Helgadottir, A.; Troughton, R. W.; Richards, A. M.; Doughty, R. N.; Patel, R. S.; Asselbergs, F. W.; Gudbjartsson, D.; Sulem, P.; Holm, H.; Stefansson, K.; Poppe, K. K.
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How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
err2024-10-01
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errOAAI
errKoch, Elise; Pardinas, Antonio F.; O'Connell, Kevin S.; Selvaggi, Pierluigi; Collados, Jose Camacho; Babic, Aleksandar; Marshall, Serena E.; van der Eycken, Erik; Angulo, Cecilia; Lu, Yi; Sullivan, Patrick F.; Dale, Anders M.; Molden, Espen; Posthuma, Danielle; White, Nathan; Schubert, Alexander; Djurovic, Srdjan; Heimer, Hakon; Stefansson, Hreinn; Stefansson, Kari; Werge, Thomas; Sonderby, Ida; O'Donovan, Michael C.; Walters, James T. R.; Milani, Lili; Andreassen, Ole A.
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Polygenic Interactions With Environmental Exposures in Blood Pressure Regulation: The HUNT Study
err2024-10-01
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errOAAI
errOvretveit, Karsten; Ingestrom, Emma M. L.; Spitieris, Michail; Tragante, Vinicius; Thomas, Laurent F.; Steinsland, Ingelin; Brumpton, Ben M.; Gudbjartsson, Daniel F.; Holm, Hilma; Stefansson, Kari; Wisloff, Ulrik; Hveem, Kristian
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Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency
err2024-08-27
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errOAAI
errOddsson, Asmundur; Steinthorsdottir, Valgerdur; Oskarsson, Gudjon R.; Styrkarsdottir, Unnur; Moore, Kristjan H. S.; Isberg, Salvor; Halldorsson, Gisli H.; Sveinbjornsson, Gardar; Westergaard, David; Nielsen, Henriette Svarre; Fridriksdottir, Run; Jensson, Brynjar O.; Arnadottir, Gudny A.; Jonsson, Hakon; Sturluson, Arni; Snaebjarnarson, Audunn S.; Andreassen, Ole A.; Walters, G. Bragi; Nyegaard, Mette; Erikstrup, Christian; Steingrimsdottir, Thora; Lie, Rolv T.; Melsted, Pall; Jonsdottir, Ingileif; Halldorsson, Bjarni V.; Thorleifsson, Gudmar; Saemundsdottir, Jona; Magnusson, Olafur Th.; Banasik, Karina; Sorensen, Erik; Masson, Gisli; Pedersen, Ole Birger; Tryggvadottir, Laufey; Haavik, Jan; Ostrowski, Sisse Rye; Stefansson, Hreinn; Holm, Hilma; Rafnar, Thorunn; Gudbjartsson, Daniel F.; Sulem, Patrick; Stefansson, Kari
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Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease
err2024-08-15
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errOAAI
errSkuladottir, Astros Th.; Tragante, Vinicius; Sveinbjornsson, Gardar; Helgason, Hannes; Sturluson, Arni; Bjornsdottir, Anna; Jonsson, Palmi; Palmadottir, Vala; Sveinsson, Olafur A.; Jensson, Brynjar O.; Gudjonsson, Sigurjon A.; Ivarsdottir, Erna V.; Gisladottir, Rosa S.; Gunnarsson, Arni F.; Walters, G. Bragi; Jonsdottir, Gudrun A.; Thorgeirsson, Thorgeir E.; Bjornsdottir, Gyda; Holm, Hilma; Gudbjartsson, Daniel F.; Sulem, Patrick; Stefansson, Hreinn; Stefansson, Kari
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Deciphering the genetics and mechanisms of predisposition to multiple myeloma
err2024-08-05
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errOAAI
errWent, Molly; Duran-Lozano, Laura; Halldorsson, Gisli H.; Gunnell, Andrea; Ugidos-Damboriena, Nerea; Law, Philip; Ekdahl, Ludvig; Sud, Amit; Thorleifsson, Gudmar; Thodberg, Malte; Olafsdottir, Thorunn; Lamarca-Arrizabalaga, Antton; Cafaro, Caterina; Niroula, Abhishek; Ajore, Ram; Portilla, Aitzkoa Lopez de Lapuente; Ali, Zain; Pertesi, Maroulio; Goldschmidt, Hartmut; Stefansdottir, Lilja; Kristinsson, Sigurdur Y.; Stacey, Simon N.; Love, Thorvardur J.; Rognvaldsson, Saemundur; Hajek, Roman; Vodicka, Pavel; Pettersson-Kymmer, Ulrika; Spath, Florentin; Schinke, Carolina; Van Rhee, Frits; Sulem, Patrick; Ferkingstad, Egil; Eldjarn, Grimur Hjorleifsson; Mellqvist, Ulf-Henrik; Jonsdottir, Ingileif; Morgan, Gareth; Sonneveld, Pieter; Waage, Anders; Weinhold, Niels; Thomsen, Hauke; Foersti, Asta; Hansson, Markus; Juul-Vangsted, Annette; Thorsteinsdottir, Unnur; Hemminki, Kari; Kaiser, Martin; Rafnar, Thorunn; Stefansson, Kari; Houlston, Richard; Nilsson, Bjorn
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