• 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 ...
    • ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 

      Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Peer reviewed; Journal article, 2016-07)
      Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ...
    • Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis 

      Zhang, Ge; Bacelis, Jonas; Lengyel, Candice; Teramo, Kari; Hallman, Mikko; Helgeland, Øyvind; Johansson, Stefan; Myhre, Ronny; Sengpiel, Verena; Njølstad, Pål Rasmus; Jacobsson, Bo; Muglia, Louis (Peer reviewed; Journal article, 2015-08-18)
      Background: Observational epidemiological studies indicate that maternal height is associated with gestational age at birth and fetal growth measures (i.e., shorter mothers deliver infants at earlier gestational ages with ...
    • Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival 

      el Jellas, Khadija; Hoem, Dag; Hagen, Kristin Gjerde; Kalvenes, May Britt; Aziz, Sura Mohammed; Steine, Solrun; Immervoll, Heike; Johansson, Stefan; Molven, Anders (Peer reviewed; Journal article, 2017-07)
      Both serology‐based and genetic studies have reported an association between pancreatic cancer risk and ABO blood groups. We have investigated this relationship in a cohort of pancreatic cancer patients from Western Norway ...
    • Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder 

      Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés; Johansson, Stefan; Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Gustafsson, Omar; Nawaz, Muhammad Sulaman; Jónsson, Gudbjörn F.; Jónsson, Lina; Knappskog, Per; Ingvarsdóttir, Ester; Davidsdóttir, Katrin; Djurovic, Srdjan; Knudsen, Gun Peggy Strømstad; Askeland, Ragna Bugge; Haraldsdóttir, Gyda S.; Baldursson, Gísli; Magnússon, Páll; Sigurdsson, Engilbert; Gudbjartsson, Daníel Fannar; Stéfansson, Hreinn; Andreassen, Ole Andreas; Haavik, Jan; Reichborn-Kjennerud, Ted; Stefánsson, Kári (Peer reviewed; Journal article, 2019-10-17)
      Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as ...
    • Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios 

      Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind; Modzelewska, Dominika; Vaudel, Marc; Flatley, Christopher; Andreassen, Ole; Njølstad, Pål Rasmus; Muglia, Louis J.; Johansson, Stefan; Zhang, Ge; Jacobsson, Bo (Journal article; Peer reviewed, 2020)
      Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring ...
    • B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris 

      Ding, Yunpeng; Pedersen, Eva Ringdal; Johansson, Stefan; Gregory III, Jesse F.; Ueland, Per Magne; Svingen, Gard Frodahl Tveitevåg; Helgeland, Øyvind; Meyer, Klaus; Fredriksen, Åse; Nygård, Ottar (Peer reviewed; Journal article, 2016-06)
      Background: Methylenetetrahydrofolate dehydrogenase (MTHFD1) catalyzes three sequential reactions that metabolize derivatives of tetrahydrofolate (THF) in folate-dependent one-carbon metabolism. Impaired MTHFD1 flux has ...
    • Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish 

      Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H.J.; Rolfsnes, Hans Olav; Bindoff, Laurence Albert; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per Morten; Johansson, Stefan; Ellingsen, Ståle (Journal article; Peer reviewed, 2021-09-24)
      The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP deficiency has been linked to several diseases, and mutations in ...
    • The Chromosome 9p21 CVD- and T2D-Associated Regions in a Norwegian Population (The HUNT2 Survey) 

      Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Nygård, Ottar; Njølstad, Pål R.; Johansson, Stefan (Peer reviewed; Journal article, 2015)
      Background. Two adjacent regions upstream CDKN2B on chromosome 9p21 have been associated with type 2 diabetes (T2D) and progression of cardiovascular disease (CVD).The precise location and number of risk variants have not ...
    • Common variants in the ARC gene are not associated with cognitive abilities 

      Myrum, Craig; Giddaluru, Sudheer; Jacobsen, Kaya Kvarme; Espeseth, Thomas; Nyberg, Lars; Lundervold, Astri; Haavik, Jan; Nilsson, Lars-Göran; Reinvang, Ivar; Steen, Vidar Martin; Johansson, Stefan; Wibrand, Karin; Le Hellard, Stephanie; Bramham, Clive R. (Peer reviewed; Journal article, 2015-09-03)
      Introduction: The Activity-Regulated Cytoskeleton-associated (ARC) gene encodes a protein that is critical for the consolidation of synaptic plasticity and long-term memory formation. Given ARC's key role in synaptic ...
    • Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data 

      Lavrichenko, Ksenia; Johansson, Stefan; Jonassen, Inge (Journal article; Peer reviewed, 2021)
      Background SNP arrays, short- and long-read genome sequencing are genome-wide high-throughput technologies that may be used to assay copy number variants (CNVs) in a personal genome. Each of these technologies comes with ...
    • DCLK1 Variants Are Associated across Schizophrenia and Attention Deficit/Hyperactivity Disorder 

      Håvik, Bjarte; Fernandes, Carla P. D.; Christoforou, Andrea; Ersland, Kari Merete; Giddaluru, Sudheer; Cichon, Sven; Steen, Vidar Martin; Hellard, Stéphanie Le; Johansson, Stefan; Bramham, Clive R.; Haavik, Jan (Peer reviewed; Journal article, 2012-04-23)
      Doublecortin and calmodulin like kinase 1 (DCLK1) is implicated in synaptic plasticity and neurodevelopment. Genetic variants in DCLK1 are associated with cognitive traits, specifically verbal memory and general cognition. ...
    • Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features 

      Berland, Siren; Rustad, Cecilie; Bentsen, Mariann; Wollen, Embjørg Julianne; Turowski, Gitta Erika; Johansson, Stefan; Houge, Gunnar Douzgos; Haukanes, Bjørn Ivar (Journal article; Peer reviewed, 2021)
      Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) (placentomegaly, hyperinsulinism, enlarged viscera, ...
    • Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE 

      Jacobsen, Kaya Kvarme; Kleppe, Rune; Johansson, Stefan; Zayats, Tetyana; Haavik, Jan (Peer reviewed; Journal article, 2015-09)
      Monoamines critically modulate neurophysiological functions affected in several neuropsychiatric disorders. We therefore examined genes encoding key enzymes of catecholamine and serotonin biosynthesis (tyrosine and tryptophan ...
    • Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study) 

      Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Platou, Carl G. P.; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2011-02-04)
      <b>Background:</b> Chronic hyperglycemia confers increased risk for long-term diabetes-associated complications and repeated hemoglobin A1c (HbA1c) measures are a widely used marker for glycemic control in diabetes treatment ...
    • Exome chip analyses in adult attention deficit hyperactivity disorder 

      Zayats, Tetyana; Jacobsen, Kaya Kvarme; Kleppe, Rune; Jacob, CP; Kittel-Schneider, Sarah; Ribases, Marta; Ramos-Quiroga, JA; Richarte, Vanesa; Casas, M; Mota, NR; Grevet, EH; Klein, M; Corominas, J; Bralten, Janita; Galesloot, T; Vasquez, AA; Herms, S; Forstner, AJ; Larsson, H; Breen, G; Asherson, P; Gross-Lesch, Silke; Lesch, KP; Cichon, Sven; Gabrielsen, Maiken Elvestad; Holmen, Oddgeir Lingaas; Bau, CH; Buitelaar, Jan; Kiemeney, L; Faraone, Stephen V.; Cormand, B; Franke, Barbara; Reif, Andreas; Haavik, Jan; Johansson, Stefan (Peer reviewed; Journal article, 2016)
      Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable childhood-onset neuropsychiatric condition, often persisting into adulthood. The genetic architecture of ADHD, particularly in adults, is largely unknown. ...
    • Exome Sequencing and Genetic Testing for MODY 

      Johansson, Stefan; Irgens, Henrik; Chudasama, Kishan K.; Molnes, Janne; Aerts, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Roque, Francisco S.; Jonassen, Inge; Molven, Anders (Peer reviewed; Journal article, 2012-05-25)
      Context: Genetic testing for monogenic diabetes is important for patient care. Given the extensive genetic and clinical heterogeneity of diabetes, exome sequencing might provide additional diagnostic potential when standard ...
    • Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes? 

      Zayats, Tetyana; Johansson, Stefan; Haavik, Jan (Peer reviewed; Journal article, 2015-10-16)
      Genome-wide association (GWA) studies have shown that many different genetic variants cumulatively contribute to the risk of psychiatric disorders. It has also been demonstrated that various parent-of-origin effects (POE) ...
    • FTO, Type 2 Diabetes, and Weight Gain Throughout Adult Life: A Meta-Analysis of 41,504 Subjects From the Scandinavian HUNT, MDC, and MPP Studies 

      Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv Terje; Platou, Carl G. P.; Nilsson, Peter M.; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus (Research report; Peer reviewed, 2011-05)
      OBJECTIVE—FTO is the most important polygene identified for obesity. We aimed to investigate whether a variant in FTO affects type 2 diabetes risk entirely through its effect on BMI and how FTO influences BMI across adult ...
    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...