Stefan Johansson's picture
Stefan
Johansson
Professor
Visit Address: 
Haukeland universitetssykehus, Laboratoriebygget
5021 Bergen
Postal Address: 
Postboks 7804
5021 Bergen
Phone: 
+47 55 58 68 48
Publications in pubmed
E-mail: 
Stefan.Johansson@k2.uib.no
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I have 15 years of experience from genetic studies of both common and rare disorders. My research interests centers around trying to understand the genetic underpinnings of a wide range of disorders such as rare highly heritable genetic disorders, diabetes and related traits and ADHD.

Journal articles
  • Flannick, Jason; Thorleifsson, G; Beer, N; Jacobs, SBR; Grarup, N; Burtt, N; Mahajan, A; Fuchsberger, C; Atzmon, G; Benediktsson, R; Blangero, J; Bowden, D; Brandslund, I; Brosnan, J; Burslem, F; Chambers, J; Cho, Y; Christensen, C; Douglas, D; Duggirala, R; Dymek, Z; Farjoun, Y; Fennell, T; Fontanillas, P; Forsen, T; Gabriel, S; Glaser, B; Gudbjartsson, D; Hanis, C; Hansen, T; Hreidarsson, A; Hveem, Kristian; Ingelsson, E; Isomaa, B; Johansson, Stefan; Jorgensen, T; Jorgensen, M; Kathiresan, S; Kong, A; Kooner, J; Kravic, J; Laakso, M; Lee, J-Y; Lind, L; Lindgren, C; Linneberg, A; Masson, G; Meitinger, T; Mohlke, K; Molven, Anders; Morris, A; Potluri, S; Rauramaa, R; Ribel-Madsen, R; Richard, A-M; Rolph, T; Salomaa, V; Segre, A; Skarstrand, H; Steinthorsdottir, V; Stringham, H; Sulem, P; Tai, E; Teo, Y; Teslovich, T; Thorsteinsdottir, U; Trimmer, J; Tuomi, T; Tuomilehto, J; Vaziri-Sani, F; Voight, B; Wilson, J; Boehnke, M; McCarthy, M; Njølstad, Pål Rasmus; Pedersen, O; Groop, L; Cox, D; Stefansson, K; Altshuler, D. 2014. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 46: 357-363. doi: 10.1038/ng.2915
  • Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland; Bongers, Ernie M.H.F.; de Leeuw, Nicole; Pfundt, Rolph; Fannemel, Madeleine; Rødningen, Olaug Kristin; Brendehaug, Atle; Haukanes, Bjørn Ivar; Hovland, Randi; Helland, Gunnar; Houge, Gunnar. 2014. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. American Journal of Medical Genetics. Part A. 164: 1622-1626. doi: 10.1002/ajmg.a.36498
  • Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A.B.; Prescon, Trine; Anderson, Carl A.; Rainger, Jacqueline; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M.; Seawright, Anne; Soares, Dinesh; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A.; van Heyningen, Veronica; Taylor, Martin S.; Yakut, Tahsin; Knappskog, Per; Hurles, Matthew E.; Ponting, Chris P.; Lupski, James R.; Houge, Gunnar; Fitzpatrick, David R. 2014. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 94: 915-923. doi: 10.1016/j.ajhg.2014.05.005
  • Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan; Claudi, Tor; König, Rainer; Haldorsen, Ingfrid S.; Johansson, Bente Berg; Woo, Ju Rang; Aarskog, Dagfinn; Sagen, Jørn V.; Kahn, C. Ronald; Molven, Anders; Njølstad, Pål Rasmus. 2013. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 93: 150-157. doi: 10.1016/j.ajhg.2013.05.023
  • Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne; Wagner, Kerstin; Hoang, Tuyen; Schierloh, Ulrike; Rocour-Brumioul, Danielle; Johansson, Stefan; Njølstad, Pål Rasmus; de Beaufort, Carine. 2013. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 1: 86-90. doi: 10.1002/ccr3.33
  • Flannick, Jason; Beer, Nicola L.; Bick, Alexander G.; Agarwala, Vineeta; Molnes, Janne; Gupta, Namrata; Burtt, Noël P.; Florez, Jose C.; Meigs, James B.; Taylor, Herman; Lyssenko, Valeriya; Irgens, Henrik Underthun; Fox, Erwin; Burslem, Frank; Johansson, Stefan; Brosnan, M. Julia; Trimmer, Jeff K.; Newton-Cheh, Christopher; Tuomi, Tiinamaija; Molven, Anders; Wilson, James G.; O'Donnell, Christopher J.; Kathiresan, Sekar; Hirschhorn, Joel N.; Njølstad, Pål Rasmus; Rolph, Tim; Seidman, Jonathan G.; Gabriel, Stacey; Cox, David R.; Seidman, Christine E.; Groop, Leif; Altshuler, David. 2013. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 45: 1380-1385. doi: 10.1038/ng.2794
  • Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 pages. doi: 10.1186/1750-1172-8-1
  • Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Molven, Anders. 2013. Type 2 diabetes genes : present status and data from Norwegian studies. Norsk Epidemiologi. 23: 9-22.
  • Jacobsen, Kaya Kvarme; Halmøy, Anne; Sánchez-Mora, Cristina; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Haavik, Jan; Johansson, Stefan. 2013. DISC1 in adult ADHD patients: An association study in two European samples. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162B: 227-234. doi: 10.1002/ajmg.b.32136
  • Mavroconstanti, Thegna; Johansson, Stefan; Winge, Ingeborg; Knappskog, Per; Haavik, Jan. 2013. Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLoS ONE. 8. 9 pages. doi: 10.1371/journal.pone.0071445
  • Molven, Anders; Torsvik, Janniche; Johansson, Bente Berg; Marie, Michael Bruno Eric; Fjeld, Karianne; Johansson, Stefan; Saraste, Jaakko; Njølstad, Pål Rasmus. 2013. Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. 56: S152-S152.
  • Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine; Knappskog, Per; Carpenter, Thomas O.; Johansson, Stefan; Bjerknes, Robert. 2013. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal of Bone and Mineral Research. 28: 1378-1385. doi: 10.1002/jbmr.1850
  • Ragvin, Anja; Fjeld, Karianne; Weiss, F. Ulrich; Torsvik, Janniche; Aghdassi, Ali; Mayerle, Julia; Simon, Peter; Njølstad, Pål Rasmus; Lerch, Markus M.; Johansson, Stefan; Molven, Anders. 2013. The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (Print). 13: 29-32. doi: 10.1016/j.pan.2012.12.059
  • Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek; Johansson, Stefan; Telstad, Wenche; Kråkenes, Jostein; Boman, Helge. 2013. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 155: 946-953. doi: 10.1016/j.ajo.2012.11.028
  • Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE. 8. 5 pages. doi: 10.1371/journal.pone.0066145
  • Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar; Tronstad, Rune Rose; Pham, Khanh Cong Do; Johansson, Stefan; Håvik, Bjarte; Tønder, Siv Lisbeth; Levy, Shawn E.; Brackman, Damien; Boman, Helge; Biswas, Kabir Hassan; Apold, Jaran; Hovdenak, Nils; Visweswariah, Sandhya S.; Knappskog, Per. 2012. Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 366: 1586-1595. doi: 10.1056/NEJMoa1110132
  • Franke, Barbara; Faraone, Stephen V.; Asherson, Philip; Buitelaar, Jan; Bau, Claiton Henrique Dotto; Ramos-Quiroga, Josep Antonio; Mick, Eric; Grevet, Eeugenio H.; Johansson, Stefan; Haavik, Jan; Lesch, Klaus-Peter; Cormand, Bru; Reif, Andreas. 2012. The genetics of attention deficit/hyperactivity disorder in adults, a review. Molecular Psychiatry. 17: 960-987. doi: 10.1038/mp.2011.138
  • Håvik, Bjarte; Degenhardt, Franziska A.; Johansson, Stefan; Duarte Fernandes, Carla; Hinney, Anke; Scherag, André; Lybæk, Helle; Djurovic, Srdjan; Christoforou, Andrea; Ersland, Kari; Giddaluru, Sudheer; O'Donovan, Michael C.; Owen, Michael J.; Craddock, Nick; Mühleisen, Thomas W.; Mattheisen, Manuel; Schimmelmann, Benno G.; Renner, Tobias J.; Warnke, Andreas; Herpertz-Dahlmann, Beate; Sinzig, Judith; Albayrak, Özgür; Rietschel, Marcella; Nöthen, Markus M.; Bramham, Clive R.; Werge, Thomas; Hebebrand, Johannes; Haavik, Jan; Andreassen, Ole Andreas; Cichon, Sven; Steen, Vidar Martin; Le Hellard, Stephanie. 2012. DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLoS ONE. 7. 12 pages. doi: 10.1371/journal.pone.0035424
  • Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar; Molnes, Janne; Aerts, Jan; Roque, Francisco; Jonassen, Inge; Levy, Shawn; Lima, Kari; Knappskog, Per; Bell, Graeme I.; Molven, Anders; Njølstad, Pål Rasmus. 2012. Exome sequencing and genetic testing for MODY. PLoS ONE. 7. 8 pages. doi: 10.1371/journal.pone.0038050
  • Berk, Michael; Johansson, Stefan; Wray, Naomi R; Williams, Lana J; Olsson, Craig; Haavik, Jan; Bjerkeset, Ottar. 2011. Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. Journal of Affective Disorders. 131: 207-213. doi: 10.1016/j.jad.2010.12.019
  • Haavik, Jan; Halmøy, Anne; Hegvik, Tor-Arne; Johansson, Stefan. 2011. Maternal genotypes as predictors of offspring mental health; the next frontier of genomic medicine? Future Neurology. 6: 731-743. doi: 10.2217/FNL.11.54
  • Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus. 2011. Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Medical Genetics. 12. 6 pages. doi: 10.1186/1471-2350-12-20
  • Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv T.; Platou, Carl Geoffrey Parrinder; Nilsson, Peter M; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus. 2011. 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. Diabetes. 60: 1637-1644. doi: 10.2337/db10-1340
  • Johansson, Bente Berg; Torsvik, Janniche; Bjørkhaug, Lise; Vesterhus, Mette; Ragvin, Anja; Tjora, Erling; Fjeld, Karianne; Hoem, Dag; Johansson, Stefan; Ræder, Helge; Lindquist, Susanne; Hernell, Olle; Cnop, Miriam; Saraste, Jaakko; Flatmark, Torgeir; Molven, Anders; Njølstad, Pål Rasmus. 2011. Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY) A PROTEIN MISFOLDING DISEASE. Journal of Biological Chemistry. 286: 34593-34605. doi: 10.1074/jbc.M111.222679
  • Kilpelainen, TO; Qi, L; Brage, S.; Sharp, SJ; Sonestedt, E; Demerath, E; Ahmad, T.; Mora, S; Kaakinen, M; Sandholt, CH; Holzapfe, C; Autenrieth, CS; Hyppönen, E; Cauch, S; He, M; Kutalik, Z; Kumari, M; Stancakova, A; Meidtner, Karina; Balkau, B; Tan, JT; Mangino, M; Timpson, NJ; Song, Y; Zillikens, MC; Jablonski, KA; Garcia, ME; Johansson, Stefan; Bragg-Gresham, JL; Wu, Y; van Vliet-Ostaptchouk, JV; Onland-Moret, NC; Zimmermann, E; Rivera, NV; Tanaka, T; Stringham, HM; Silbernagel, G; Kanoni, S; Feitosa, MF; Snitker, S; Ruiz, JR; Metter, J; Larrad, MT; Atalay, M; Hakanen, M; Amin, N; Cavalcanti-Proença, C; Grøntved, Anders; Hallmans, G; Jansson, JO; Kuusisto, J; Kahonen, M; Lutsey, PL; Nolan, JJ; Palla, L; Pedersen, Oluf; Pérusse, L; Renström, F; Scott, RA; Shungin, D; Sovio, U; Tammelin, TH; Ronnemaa, T; Lakka, TA; Uusitupa, Matti; Rios, MS; Ferrucci, L; Bouchard, C; Meirhaeghe, A; Fu, M; Walker, M; Borecki, IB; Dedoussis, GV; Fritsche, A; Ohlsson, C; Boehnke, M; Bandinelli, S; van Duijn, CM; Ebrahim, S; Lawlor, DA; Gudnason, V; Harris, TB; Sørensen, TI; Mohlke, KL; Hofman, A; Uitterlinden, AG; Tuomilehto, Jaakko; Lehtimaki, T; Raitakari, O; Isomaa, B; Njølstad, Pål Rasmus; Florez, JC; Liu, S; Ness, A.; Spector, TD; Tai, ES; Froguel, Philippe; Boeing, H; Laakso, M; Marmot, M; Bergmann, S; Power, C; Khaw, KT; Chasman, D; Ridker, P; Hansen, Torben; Monda, KL; Illig, T; Jarvelin, MR; Wareham, NJ; Hu, FB; Groop, Leif; Orho-Melander, Marju; Ekelund, U; Franks, Paul W; Loos, Ruth J.F. 2011. Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Medicine. 8. 14 pages. doi: 10.1371/journal.pmed.1001116
  • Landaas, Elisabeth Toverud; Johansson, Stefan; Halmøy, Anne; Ødegaard, Ketil Joachim; Fasmer, Ole Bernt; Haavik, Jan. 2011. Bipolar disorder risk alleles in adult ADHD patients. Genes, Brain and Behavior. 10: 418-423. doi: 10.1111/j.1601-183X.2011.00680.x
  • Landaas, Elisabeth Toverud; Johansson, Stefan; Halmøy, Anne; Ødegaard, Ketil Joachim; Fasmer, Ole Bernt; Haavik, Jan. 2011. No association between the serotonin transporter gene polymorphism 5-HTTLPR and cyclothymic temperament as measured by TEMPS-A. Journal of Affective Disorders. 129: 308-312. doi: 10.1016/j.jad.2010.08.028
  • Reif, Andreas; Nguyen, T. Trang; Weissflog, Lena; Jacob, Christian P.; Romanos, Marcel; Renner, Tobias J.; Buttenschøn, Henriette Nørmølle; Kittel-Schneider, Sarah; Gessner, Alexandra; Weber, Heike; Neuner, Maria; Gross-Lesch, Silke; Zamzow, Karin; Kreiker, Susanne; Walitza, Susanne; Meyer, Jobst; Freitag, Christine M.; Bosch, Rosa; Casas, Miquel; Gómez, Nuria; Ribasès, Marta; Bayes, Mónica; Buitelaar, Jan K.; Kiemeney, Lambertus A.L.M.; Kooij, J.J. Sandra; Kan, Cees C.; Hoogman, Martine; Johansson, Stefan; Jacobsen, Kaya Kvarme; Knappskog, Per; Fasmer, Ole Bernt; Asherson, Philip; Warnke, Andreas; Grabe, Hans Jörgen; Mahler, Jessie; Teumer, Alexander; Völzke, Henry; Mors, Ole N.; Schäfer, Helmut; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Haavik, Jan; Franke, Barbara; Lesch, Klaus-Peter. 2011. DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. Neuropsychopharmacology. 36: 2318-2327. doi: 10.1038/npp.2011.120
  • Sánchez-Mora, Cristina; Ribases, Marta; Casas, Miquel; Bayes, Mònica; Bosch, Rosa; Fernàndez-Castillo, Noèlia; Brunso, Lucas; Jacobsen, Kaya Kvarme; Landaas, Elisabeth Toverud; Lundervold, Astri; Gross-Lesch, Silke; Kreiker, Susanne; Jacob, Christian P.; Lesch, Klaus-Peter; Buitelaar, Jan K.; Hoogman, Martine; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Mick, Eric O.; Asherson, Philip; Faraone, Stephen V.; Franke, Barbara; Reif, Andreas; Johansson, Stefan; Haavik, Jan; Ramos-Quiroga, Josep Antonio; Cormand, Bru. 2011. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four european populations. American Journal of Medical Genetics. 156B: 600-612. doi: 10.1002/ajmg.b.31202
  • Allen, Hana Lango; Johansson, Stefan; Ellard, Sian; Shields, Beverley; Hertel, Jens Kristoffer; Ræder, Helge; Colclough, Kevin; Molven, Anders; Frayling, Timothy; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Weedon, Michael N. 2010. Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. Diabetes. 59: 266-271. doi: 10.2337/db09-0555
  • Arcos-Burgos, Mauricio; Jain, Mahim; Acosta, Maria T.; Shively, Sharon Baughman; Stanescu, Horia; Wallis, David G.; Domené, Sabina; Vélez, Jorge I.; Karkera, Jayaprakash D.; Balog, Joan Z.; Berg, Karin; Kleta, Robert; Gahl, William A.; Roessler, Erich; Long, Robert; Lie, Johan; Pineda, David; Londono, Ane Cecilia; Palacio, Juan D.; Arbeláez, Andrés; Lopera, Francisco; Elia, Josephine; Hakonarson, Hakon H.; Johansson, Stefan; Knappskog, Per Morten; Haavik, Jan; Ribases, Marta; Cormand, Bru; Bayes, Mònica; Casas, Miguel; Ramos-Quiroga, Josep Antonio; Hervas, Amaia; Maher, Brion S.; Seitz, Christiane; Freitag, Christine M.; Palmason, Haukur; Meyer, Jobst; Romanos, Marcel; Walitza, Susanne; Hemminger, Uwe; Warnke, Andreas; Romanos, Jasmin; Renner, Tobias J.; Jacob, Christian; Lesch, Klaus-Peter; Swanson, James; Vortmeyer, Alexander; Bailey-Wilson, Joan E.; Castellanos, F. Xavier; Muenke, Maximillian. 2010. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Molecular Psychiatry. 15: 1053-1066. doi: 10.1038/mp.2010.6
  • Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar. 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
  • Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan; Hoogman, Martine; Romanos, Jasmin; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Casas, Miguel; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Gómez-Barros, Núria; Fernàndez-Castillo, Noèlia; Bayes, Mònica; Halmøy, Anne; Halleland, Helene; Landaas, Elisabeth Thoverud; Fasmer, Ole Bernt; Knappskog, Per Morten; Heister, Angelien J.G.A.M.; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Boonstra, A. Marije; Kan, Cees C.; Asherson, Philip; Faraone, Stephen V.; Buitelaar, Jan K.; Haavik, Jan; Cormand, Bru; Ramos-Quiroga, Josep Antonio; Reif, Andreas. 2010. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 35: 656-664. doi: 10.1038/npp.2009.170
  • Halmøy, Anne; Johansson, Stefan; Winge, Ingeborg; Mc Kinney, Jeffrey Alan; Knappskog, Per Morten; Haavik, Jan. 2010. Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Archives of General Psychiatry. 67: 1033-1043.
  • Johansson, Stefan; Halmøy, Anne; Mavroconstanti, Thegna; Jacobsen, Kaya Kvarme; Landaas, Elisabeth Thoverud; Reif, Andreas; Jacob, Christian P.; Boreatti-Hümmer, Andrea; Kreiker, Susanne; Lesch, Klaus-Peter; Kan, Cees C.; Kooij, J.J. Sandra; Kiemeney, Lambertus A.; Buitelaar, Jan K.; Franke, Barbara; Ribases, Marta; Bosch, Rosa; Bayes, Mònica; Casas, Miguel; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Knappskog, Per Morten; Haavik, Jan. 2010. Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations. American Journal of Medical Genetics. 153B: 1008-1015. doi: 10.1002/ajmg.b.31067
  • Landaas, Elisabeth Thoverud; Johansson, Stefan; Jacobsen, Kaya Kvarme; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Jacob, Christian P.; Boreatti-Hümmer, Andrea; Kreiker, Susanne; Lesch, Klaus-Peter; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Kan, Cees C.; Buitelaar, Jan K.; Faraone, Stephen V.; Halmøy, Anne; Ramos-Quiroga, Josep Antonio; Cormand, Bru; Reif, Andreas; Franke, Barbara; Mick, Eric O.; Knappskog, Per Morten; Haavik, Jan. 2010. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes, Brain and Behavior. 9: 449-458. doi: 10.1111/j.1601-183X.2010.00567.x
  • Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund; Ræder, Helge; Johansson, Stefan; Molven, Anders. 2010. Fremskritt innen diabetesgenetikk. Tidsskrift for Den norske legeforening. 130: 1145-1149.
  • Sánchez-Mora, Cristina; Ribases, Marta; Ramos-Quiroga, Josep Antonio; Casas, Miguel; Bosch, Rosa; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Fasmer, Ole Bernt; Knappskog, Per Morten; Kooij, J.J. Sandra; Kan, Cees C.; Buitelaar, Jan K.; Mick, Eric O.; Asherson, Philip; Faraone, Stephen V.; Franke, Barbara; Johansson, Stefan; Haavik, Jan; Reif, Andreas; Bayes, Mònica; Cormand, Bru. 2010. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. American Journal of Medical Genetics. 153B: 512-523. doi: 10.1002/ajmg.b.31008
  • Torsvik, Janniche; Johansson, Stefan; Johansen, Anders; Ek, Jakob; Minton, Jayne; Ræder, Helge; Ellard, Sian; Hattersley, Andrew; Pedersen, Oluf; Hansen, Torben; Molven, Anders; Njølstad, Pål Rasmus. 2010. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics. 127: 55-64. doi: 10.1007/s00439-009-0740-8
  • Ødegaard, Ketil Joachim; Greenwood, Tifany A.; Johansson, Stefan; Jacobsen, Kaya Kvarme; Halmøy, Anne; Fasmer, Ole Bernt; Akiskal, Hagop Souren; Haavik, Jan; Kelsoe, John R. 2010. A genome-wide association study of bipolar disorder and comorbid migraine. Genes, Brain and Behavior. 9: 673-680. doi: 10.1111/j.1601-183X.2010.00601.x
  • Ødegaard, Ketil Joachim; Johansson, Stefan; Greenwood, Tifany A.; Fasmer, Ole Bernt; Akiskal, HS; Haavik, Jan; Kelsoe, John R. 2010. A genetic study of bipolar disorder and co-morbid migraine. Bipolar Disorders. 12: 62-62.
  • Allen, HL; Johansson, Stefan; Ellard, S; Shields, Beverley; Hertel, Jens Kristoffer; Raeder, H.; Colclough, K; Molven, Anders; Frayling, TM; Njolstad, PR; Hattersley, AT; Weedon, MN. 2009. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Journal of Medical Genetics. 46: S26-S26.
  • Cormand, B; Ribasés, M; Ramos-Quiroga, JA; Sánchez-Mora, C; Casas, M; Johansson, Stefan; Haavik, Jan; Reif, A; Franke, B; Bayes, M. 2009. The dopamine system in adult ADHD - findings from the IMpACT study. European Neuropsychopharmacology. 19: S186-S186.
  • Franke, B; Johansson, Stefan; Cormand, B; Ramos-Quiroga, JA; Asherson, P; Faraone, SV; Buitelaar, JK; Lesch, KP; Haavik, Jan; Reif, A. 2009. From childhood to adulthood - testing the IMAGE candidates in IMpACT. European Neuropsychopharmacology. 19: S185-S185.
  • Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan; Hoogman, Martine; Romanos, Jasmin; Boreatti-Hümmer, Andrea; Heine, Monika; Jacob, Christian P.; Lesch, Klaus-Peter; Casas, Miguel; Ribases, Marta; Bosch, Rosa; Sánchez-Mora, Cristina; Gómez-Barros, Núria; Fernàndez-Castillo, Noèlia; Bayes, Mònica; Halmøy, Anne; Halleland, Helene; Landaas, Elisabeth Thoverud; Fasmer, Ole Bernt; Knappskog, Per Morten; Heiste, Angelien J.G.A.M.; Kiemeney, Lambertus A.; Kooij, J.J. Sandra; Boonstra, A. Marije; Kan, Cees C.; Asherson, Philip; Faraone, Stephen V.; Buitelaar, Jan K.; Haavik, Jan; Cormand, Bru; Ramos-Quiroga, Josep Antonio; Reif, Andreas. 2009. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 35: 656-664. doi: 10.1038/npp.2009.170
  • Haavik, Jan; Johansson, Stefan; Knappskog, Per Morten; Winge, Ingeborg; McKinney, JA; Halmoy, A; Landaas, ET. 2009. From synthesis to uptake - serotonergic genes in adult ADHD. European Neuropsychopharmacology. 19: S186-S186.
  • Halleland, Helene; Lundervold, Astri; Halmøy, Anne; Haavik, Jan; Johansson, Stefan. 2009. Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. American Journal of Medical Genetics. 150B: 403-410. doi: 10.1002/ajmg.b.30831
  • Jansson, C; Nordenstedt, H; Wallander, MA; Johansson, S; Johnsen, Roar; Hveem, Kristian; Lagergren, J. 2009. A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. Clinical Gastroenterology and Hepatology. 7: 960-965. doi: 10.1016/j.cgh.2009.03.007
  • Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan; Skinningsrud, Beate; Lie, Benedicte A; Myhr, Kjell-Morten; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål Rasmus; Kvien, Tore K.; Førre, Øystein; Knappskog, Per Morten; Husebye, Eystein Sverre. 2009. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 10: 120-124. doi: 10.1038/gene.2008.85
  • Ribases, Marta; Bosch, Rosa; Hervas, Amaia; Ramos-Quiroga, Josep Antonio; Sánchez-Mora, Cristina; Bielsa, Anna; Gastaminza, Xavier; Guijarro-Domingo, Silvia; Nogueira, Mariana; Gómez-Barros, Núria; Kreiker, Susanne; Gross-Lesch, Silke; Jacob, Christian P.; Lesch, Klaus-Peter; Reif, Andreas; Johansson, Stefan; Plessen, Kerstin J.; Knappskog, Per Morten; Haavik, Jan; Estivill, Xavier; Casas, Miguel; Bayes, Mònica; Cormand, Bru. 2009. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biological Psychiatry. 66: 926-934. doi: 10.1016/j.biopsych.2009.06.024
  • Eide, Stig Åge; Ræder, H; Ræder, Helge; Johansson, Stefan; Midthjell, Kristian; Søvik, O; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 25: 775-781. doi: 10.1111/j.1464-5491.2008.02459.x
  • Fjeld, Karianne; Torsvik, Janniche; Johansson, Stefan; Ek, Jakob; Flanagan, Sarah E.; Johansen, Anders; Ræder, Helge; Pedersen, Oluf; Hattersley, Andrew T.; Hansen, Torben; Molven, Anders; Njølstad, Pål Rasmus. 2008. Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. 51: S123-S123. doi: 10.1007/s00125-008-1117-6
  • Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, H; Ræder, Helge; Midthjell, Kristian; Lyssenko, Valeriya; Groop, Leif; Molven, Anders; Njølstad, Pål Rasmus. 2008. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 51: 971-977. doi: 10.1007/s00125-008-0982-3
  • Jansson, C; Nordenstedt, H; Wallander, MA; Johansson, S; Johnsen, Roar; Hveem, Kristian; Lagergren, J. 2008. Severe symptoms of gastro-oesophageal reflux disease are associated with cardiovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. Alimentary Pharmacology and Therapeutics. 27: 58-65. doi: 10.1111/j.1365-2036.2007.03537.x
  • Jansson, Catarina; Nordenstedt, Helena; Wallander, MA; Johansson, S; Johnsen, Roar; Hveem, Kristian; Lagergren, Jesper. 2008. Severe symptoms of gastro-oesophageal reflux disease are associated with cardovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. Alimentary Pharmacology and Therapeutics. 27: 58-65.
  • Johansson, Stefan; Halleland, Helene; Halmøy, Anne; Jacobsen, Kaya; Landaas, Elisabeth; Dramsdahl, Margaretha; Fasmer, Ole Bernt; Bergsholm, Per; Lundervold, Arvid; Gillberg, Christopher; Hugdahl, Kenneth; Knappskog, Per; Haavik, Jan. 2008. Genetic Analyses of Dopamine Related Genes in Adult ADHD Patients Suggest an Association With the DRD5-Microsatellite Repeat, But Not With DRD4 or SLC6A3 VNTRs. American Journal of Medical Genetics. 147B: 1470-1475. doi: 10.1002/ajmg.b.30662
  • Johansson, Stefan; Hertel, Jens Kristoffer; Midthjell, Kristian; Molven, Anders; Njølstad, Pål Rasmus. 2008. The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. Diabetologia. 51: S129-S129. doi: 10.1007/s00125-008-1117-6
  • Magitta, Ng’weina Francis; Bøe, AS; Johansson, S; Skinningsrud, Beate; Lie, Benedicte Alexandra; Myhr, KM; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål R.; Kvien, Tore Kristian; Førre, Øystein Thorleiv; Knappskog, P.M.; Husebye, Eystein. 2008. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. doi: 10.1038/gene.2008.85
  • Mckinney, Jeffrey; Johansson, Stefan; Halmøy, Anne; Dramsdahl, Margaretha; Winge, Ingeborg; Knappskog, Per; Haavik, Jan. 2008. A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Molecular Psychiatry. 13: 365-367. doi: 10.1038/sj.mp.4002152
  • Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan; Saraste, Jaakko; Njølstad, Pål Rasmus; Molven, Anders. 2008. Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. 51: S123-S124. doi: 10.1007/s00125-008-1117-6
  • Vesterhus, Mette; Ræder, Helge; Johansson, Stefan; Molven, Anders; Njølstad, Pål Rasmus. 2008. Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. Diabetes Care. 31: 306-310. doi: 10.2337/dc07-1002
  • Wolff, Anette Susanne Bøe; Oftedal, Bergithe Eikeland; Johansson, Stefan; Bruland, Ove; Løvås, Kristian; Meager, Anthony; Pedersen, Carsten; Husebye, Eystein Sverre; Knappskog, Per. 2008. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes and Immunity. 9: 130-136. doi: 10.1038/sj.gene.6364457
  • Johansson, Stefan; Kagstrom, Bo; Shiriaev, Anton; Varga, Andras. 2007. Comparing one-shot and multi-shot methods for solving periodic Riccati equations. Elsevier IFAC Publications / IFAC Proceedings series.
  • Johansson, Stefan; Ræder, Helge; Eide, Stig Åge; Midthjell, Kristian; Hveem, Kristian; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2007. Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians. Diabetes. 56: 3112-3117. doi: 10.2337/db07-0513
  • Vesterhus, Mette; Johansson, Stefan; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. 50: S123-S123. doi: 10.1007/s00125-007-0809-7
  • Blomhoff, Anne; Olsson, M; Johansson, Stefan; Akselsen, HE; Pociot, F; Nerup, J; Undlien, Dag Erik; Kockum, I; Cambon-Thomsen, A; Thorsby, Erik; Lie, Benedicte Alexandra. 2006. Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes. Genes and Immunity. 7: 130-140.
  • Raeder, Helge; Ræder, Helge; Bjorkhaug, Lise; Bjørkhaug, Lise; Johansson, Stefan; Mangseth, Kjersti; Sagen, Jørn V.; Hunting, Anne; Følling, Ivar; Johansen, Odd; Bjørgaas, Marit; Paus, Povel N.; Søvik, Oddmund; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2006. A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes - Studies of HNF4A variants in the Norwegian MODY registry. Diabetes. 55: 1899-1903. doi: 10.2337/db05-1677
  • Ræder, Helge; Johansson, Stefan; Holm, Pål I.; Haldorsen, Ingfrid S.; Mas, Eric; Sbarra, Véronique; Nermoen, Ingrid; Eide, Stig Åge; Grevle, Louise; Bjørkhaug, Lise; Sagen, Jørn V.; Aksnes, Lage; Søvik, Oddmund; Lombardo, Dominique; Molven, Anders; Njølstad, Pål Rasmus. 2006. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 38: 54-62. doi: 10.1038/ng1708
  • Bjørkhaug, Lise; Johansson, Stefan; Ræder, Helge; Thorsby, PM; Undlien, DE; Søvik, Oddmund; Molven, Anders; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 125: 2968-2972.
  • Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge; Undlien, Dag E.; Molven, Anders; Søvik, Oddmund; Thorsby, Per; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 125: 2968-2972.
  • Johansson, Stefan; Lie, Benedicte Alexandra; Combon-Thomsen, A; Pociot, Flemming; Nerup, Jørn; Kockum, I.; Thorsby, Erik; Undlien, Dag Erik. 2003. No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex. Human Immunology. 64: 951-959.
  • Johansson, Stefan; Lie, Benedicte Alexandra; Pociot, Flemming; Nerup, Jørn; Cambon-Thomsen, Anne; Kockum, I.; Thorsby, Erik; Undlien, Dag Erik. 2003. HLA association in type I diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes. Tissue Antigens. 61: 344-351.
  • Johansson, Stefan; Lie, Benedicte Alexandra; Todd, J. A.; Pociot, Flemming; Nerup, Jørn; Combon-Thomsen, J; Kockum, I.; Akselsen, H.E.; Thorsby, Erik; Undlien, Dag Erik. 2003. Evidence of at least two type 1 diabets susceptiblity genes in the HLA complex distinct from HLADQA1 and-DRB1. Genes and Immunity. 4: 46-53.

More information in national current research information system (CRIStin)

Fields of competence 
Genomic analysis of disorders.
Exome Sequencing
Molecular genetics
Current projects

Partner (genomic/genetic analysis) in

  • K.G. Jebsen Centre for Diabetes Research

  • K.G. Jebsen Centre for Neuropsychiatric Research

  • H2020-MSCA-ITN-2014: MiND                                             

  • FP7 Aggressotype programme (Grant Agreement no. 602805-2)