• 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 

      Sønderby, Ida Elken; van der Meer, Dennis; Moreau, Clara; Kaufmann, Tobias; Walters, G. Bragi; Ellegaard, Maria; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J.; Bernard, Manon; Blackburn, Nicholas B.; Blangero, John; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Bülow, Robin; Bøen, Rune; Cahn, Wiepke; Calhoun, Vince D.; Caspers, Svenja; Ching, Christopher R. K.; Cichon, Sven; Ciufolini, Simone; Crespo-Facorro, Benedicto; Curran, Joanne E.; Dale, Anders M.; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J. C.; Zubicaray, Greig I. de; Zwarte, Sonja M. C. de; Desrivieres, Sylvane; Doherty, Joanne L.; Donohoe, Gary; Draganski, Bogdan; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fejgin, Kim; Fisher, Simon E.; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Ge, Tian; Glahn, David C.; Grabe, Hans J.; Groenewold, Nynke A.; Gustafsson, Omar; Haavik, Jan; Haberg, Asta Kristine; Hall, Jeremy; Hashimoto, Ryota; Hehir-Kwa, Jayne Y.; Hibar, Derrek P.; Hillegers, Manon H. J.; Hoffmann, Per; Holleran, Laurena; Holmes, Avram J.; Johansson, Stefan; Jönsson, Erik Gunnar; Hellard, Stephanie Francoise Claire Le; Lundervold, Arvid; Lundervold, Astri J.; Moberget, Torgeir; Nordvik, Jan Egil; Sando, Sigrid Botne; Steen, Vidar Martin; Tamnes, Christian Krog; Agartz, Ingrid; Djurovic, Srdjan; Westlye, Lars Tjelta; Andreassen, Ole; Homuth, Georg; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Ikeda, Masashi; Jahanshad, Neda; Jockwitz, Christiane; Jørgensen, Niklas R.; Kikuchi, Masataka; Knowles, Emma E. M.; Kumar, Kuldeep; Leu, Costin; Linden, David E. J.; Liu, Jingyu; Maillard, Anne M.; Martin, Nicholas G.; Martin-Brevet, Sandra; Mather, Karen A.; Mathias, Samuel R.; McMahon, Katie L.; McRae, Allan F.; Medland, Sarah E.; Meyer-Lindenberg, Andreas; Modenato, Claudia; Monereo Sánchez, Jennifer; Morris, Derek W.; Mühleisen, Thomas W.; Murray, Robin M.; Nielsen, Jacob; Nyberg, Lars; Olde Loohuis, Loes M.; Ophoff, Roel A.; Owen, Michael J.; Paus, Tomas; Pausova, Zdenka; Peralta, Juan M.; Pike, G. Bruce; Prieto, Carlos; Quinlan, Erin B.; Reinbold, Céline S.; Reis Marques, Tiago; Rucker, James J. H.; Sachdev, Perminder S.; Schofield, Peter R.; Schork, Andrew J.; Schumann, Gunter; Shin, Jean; Shumskaya, Elena; Silva, Ana I.; Sisodiya, Sanjay M.; Stein, Dan J.; Strike, Lachlan T.; Suzuki, Ikuo K.; Teumer, Alexander; Thalamuthu, Anbupalam; Tordesillas-Gutiérrez, Diana; Uhlmann, Anne; Ulfarsson, Magnus O.; van ‘t Ent, Dennis; van den Bree, Marianne B. M.; Vanderhaeghen, Pierre; Vassos, Evangelos; Wen, Wei; Wittfeld, Katharina; Wright, Margaret J.; Stefansson, Hreinn; Stefansson, Kari; Jacquemont, Sébastien; Thompson, Paul M. (Journal article; Peer reviewed, 2021)
      Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers ...
    • Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality 

      Oddsson, Asmundur; Sulem, Patrick; Sveinbjornsson, Gardar; Arnadottir, Gudny A.; Steinthorsdottir, Valgerdur; Halldorsson, Gisli H.; Atlason, Bjarni A.; Oskarsson, Gudjon R.; Helgason, Hannes; Nielsen, Henriette Svarre; Westergaard, David; Karjalainen, Juha; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jensson, Brynjar O.; Tragante, Vinicius; Ferkingstad, Egil; Jónsson, Hákon; Gudjonsson, Sigurjon A.; Beyter, Doruk; Moore, Kristjan H.S.; Thordardottir, Helga B.; Kristmundsdottir, Snædis; Stefansson, Olafur A.; Rantapää Dahlqvist, Solbritt; Sonderby, Ida Elken; Didriksen, Maria; Stridh, Pernilla; Haavik, Jan; Tryggvadottir, Laufey; Frei, Oleksandr; Walters, G. Bragi; Kockum, Ingrid; Hjalgrim, Henrik; Olafsdottir, Thorunn A; Selbæk, Geir; Nyegaard, Mette; Erikstrup, Christian; Brodersen, Thorsten; Sævarsdottir, Sædis; Olsson, Tomas; Nielsen, Kaspar Rene; Haraldsson, Àsgeir; Bruun, Mie Topholm; Hansen, Thomas Folkmann; Steingrimsdottir, Thora; Jacobsen, Rikke Louise; Lie, Rolv T.; Djurovic, Srdjan; Alfredsson, Lars; Portilla, A.L.; Brunak, Søren; Havdahl, Alexandra; Andreassen, Ole (Journal article; Peer reviewed, 2023)
      Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with ...
    • Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura 

      Bjornsdottir, Gyda; Chalmer, Mona A.; Stefansdottir, Lilja; Skuladottir, Astros Th.; Einarsson, Gudmundur; Andresdottir, Margret; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldorsson, Bjarni V.; Halldorsson, Gisli H.; Helgadottir, Anna; Helgason, Hannes; Hjorleifsson Eldjarn, Grimur; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Jonsdottir, Ingileif; Knowlton, Kirk U.; Nadauld, Lincoln D.; Lund, Sigrun H.; Magnusson, Olafur Th.; Melsted, Pall; Moore, Kristjan H. S.; Oddsson, Asmundur; Olason, Pall I.; Sigurdsson, Asgeir; Stefansson, Olafur A.; Saemundsdottir, Jona; Sveinbjornsson, Gardar; Tragante, Vinicius; Unnsteinsdottir, Unnur; Walters, G. Bragi; Zink, Florian; Rødevand, Linn; Andreassen, Ole; Igland, Jannicke; Lie, Rolv T.; Haavik, Jan; Banasik, Karina; Brunak, Søren; Didriksen, Maria; T. Bruun, Mie; Erikstrup, Christian; Kogelman, Lisette J. A.; Nielsen, Kaspar R.; Sørensen, Erik; Pedersen, Ole B.; Ullum, Henrik; Bay, Jakob; Boldsen, Jens K.; Brodersen, Thorsten; Burgdorf, Kristoffer; Dinh, Khoa M.; Dowsett, Joseph; Feenstra, Bjarke; Geller, Frank; Hindhede, Lotte; Hjalgrim, Henrik; Jacobsen, Rikke L.; Jemec, Gregor; Kaspersen, Katrine; Kjerulf, Bertram D.; Larsen, Margit A. H.; Louloudis, Ioannis; Lundgaard, Agnete; Mikkelsen, Susan; Mikkelsen, Christina; Nissen, Ioanna; Nyegaard, Mette; Henriksen, Alexander P.; Rohde, Palle D.; Rostgaard, Klaus; Swinn, Michael; Thørner, Lise W.; Bruun, Mie T.; Werge, Thomas; Westergaard, David; Masson, Gisli; Thorsteinsdottir, Unnur; Olesen, Jes; Ludvigsson, Petur; Thorarensen, Olafur; Bjornsdottir, Anna; Sigurdardottir, Gudrun R.; Sveinsson, Olafur A.; Ostrowski, Sisse R.; Holm, Hilma; Gudbjartsson, Daniel F.; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Hreinn; Thorgeirsson, Thorgeir E.; Hansen, Thomas F; Stefansson, Kari (Journal article; Peer reviewed, 2023)
      Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European ...