Hjem
Stefan Johanssons bilde
  • E-postStefan.Johansson@uib.no
  • Telefon+47 55 97 58 56
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
  • Postadresse
    Postboks 7804
    5020 Bergen

Leader for the Diabetes Research Group, K2.   https://www.uib.no/en/diabetes

Leader for the Genomics Group, K2.  https://www.uib.no/en/diabetes/122148/genomics-group

My research interests centers around trying to understand the genetic underpinnings of rare highly heritable genetic disorders, diabetes and related traits and ADHD.

More info can be found on my Publons page: https://publons.com/researcher/2802796/stefan-johansson/

 

Teach topics in genetics for medicine (MED3), master courses (HUMGEN301, BMED320) and sporadic lectures on various courses.

Vitenskapelig artikkel
  • Liu, Xueping; Helenius, Dorte; Skotte, Line; Beaumont, Robin N.; Wielscher, Matthias; Geller, Frank; Juodakis, Julius; Mahajan, Anubha; Bradfield, Jonathan P.; Lin, Frederick T.J.; Vogelezang, Suzanne; Bustamante, Mariona; Ahluwalia, Tarunveer S.; Pitkänen, Niina; Wang, Carol A.; Bacelis, Jonas; Borges, Maria C.; Zhang, Ge; Bedell, Bruce A.; Rossi, Robert M.; Skogstrand, Kristin; Peng, Shouneng; Thompson, Wesley Kurt; Appadurai, Vivek; Lawlor, Debbie A.; Kalliala, Ilkka; Power, Christine; McCarthy, Mark I.; Boyd, Heather A.; Marazita, Mary L.; Hakonarson, Hakon; Hayes, M. Geoffrey; Scholtens, Denise M.; Rivadeneira, Fernando; Jaddoe, Vincent W.V.; Vinding, Rebecca K.; Bisgaard, Hans; Knight, Bridget A.; Pahkala, Katja; Raitakari, Olli; Helgeland, Øyvind; Johansson, Stefan; Njølstad, Pål Rasmus; Fadista, João; Schork, Andrew J.; Nudel, Ron; Miller, Daniel E.; Chen, Xiaoting; Weirauch, Matthew T.; Mortensen, Preben Bo; Børglum, Anders D.; Nordentoft, Merete; Mors, Ole; Hao, Ke; Ryckman, Kelli K.; Hougaard, David M.; Kottyan, Leah C.; Pennell, Craig E.; Lyytikäinen, Leo-Pekka; Bønnelykke, Klaus; Vrijheid, Martine; Felix, Janine F.; Lowe, William L.; Grant, Struan F.A.; Hyppönen, Elina; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Muglia, Louis J.; Murray, Jeffrey C.; Freathy, Rachel M.; Werge, Thomas M.; Melbye, Mads; Buil, Alfonso; Feenstra, Bjarke. 2019. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 1-13.
  • Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos; Fabregat, Antonio; Johansson, Stefan; Njølstad, Pål Rasmus; Barsnes, Harald; Hermjakob, Henning; Vaudel, Marc. 2019. PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. GigaScience. 1-13.
  • Warrington, Nicole Maree; Beaumont, Robin N.; Horikoshi, Momoko; Day, Felix R.; Helgeland, Øyvind; Laurin, Charles; Bacelis, Jonas; Peng, Shouneng; Hao, Ke; Feenstra, Bjarke; Wood, Andrew R.; Mahajan, Anubha; Tyrrell, Jessica; Robertson, Neil R.; Rayner, N William; Qiao, Zhen; Moen, Gunn-Helen; Marsit, Carmen J.; Chen, Jia; Nodzenski, Michael; Schnurr, Theresia M.; Zafarmand, Mohammad H.; Bradfield, Jonathan P.; Grarup, Niels; Kooijman, Marjolein N.; Li-Gao, Ruifang; Geller, Frank; Ahluwalia, Tarunveer S.; Paternoster, Lavinia; Rueedi, Rico; Huikari, Ville; Hottenga, Jouke-Jan; Lyytikäinen, Leo-Pekka; Cavadino, Alana; Metrustry, Sarah; Cousminer, Diana L.; Wu, Ying; Thiering, Elisabeth; Wang, Carol A.; Have, Christian T.; Vilor-Tejedor, Natalia; Joshi, Peter K.; Painter, Jodie N.; Ntalla, Ioanna; Myhre, Ronny; Pitkänen, Niina; van Leeuwen, Elisabeth M.; Joro, Raimo; Lagou, Vasiliki; Richmond, Rebecca C.; Espinosa, Ana; Barton, Sheila J.; Inskip, Hazel M.; Holloway, John W.; Santa-Marina, Loreto; Estivill, Xavier; Ang, Wei; Marsh, Julie A.; Reichetzeder, Christoph; Marullo, Letizia; Hocher, Berthold; Lunetta, Kathryn L.; Murabito, Joanne M.; Relton, Caroline L.; Kogevinas, Manolis; Chatzi, Leda; Allard, Catherine; Bouchard, Luigi; Hivert, Marie-France; Zhang, Ge; Muglia, Louis J.; Heikkinen, Jani; Morgen, Camilla S.; van Kampen, Antoine H.C.; van Schaik, Barbera D.C.; Mentch, Frank D.; Langenberg, Claudia; Luan, Jian'an; Scott, Robert A.; Zhao, Jing Hua; Hemani, Gibran; Ring, Susan M.; Bennett, Amanda J.; Gaulton, Kyle J.; Fernandez-Tajes, Juan; van Zuydam, Natalie R.; Medina-Gomez, Carolina; de Haan, Hugoline Georgette; Rosendaal, Frits Richard; Kutalik, Zoltán; Marques-Vidal, Pedro; Das, Shikta; Willemsen, Gonneke; Mbarek, Hamdi; Müller-Nurasyid, Martina; Standl, Marie; Appel, Emil V.R.; Fonvig, Cilius E.; Trier, Caecilie; van Beijsterveldt, Catharina E.M. 2019. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics. 804-814.
  • Qiao, Zhen; Zheng, Jie; Helgeland, Øyvind; Vaudel, Marc; Johansson, Stefan; Njølstad, Pål Rasmus; Smith, Georeg Davey; Warrington, Nicole Maree; Evans, David M. 2019. Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics. 51-66.
  • Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt; Holmen, Oddgeir Lingaas; Juodakis, Julius; Bacelis, Jonas; Jacobsson, Bo; Lindekleiv, Haakon; Hveem, Kristian; Lie, Rolv T.; Knudsen, Gun Peggy Strømstad; Stoltenberg, Camilla; Magnus, Per; Sagen, Jørn V.; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus. 2019. Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature Communications. 1-10.
  • 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. 2019. Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational psychiatry. 1-9.
  • van der Meer, Dennis; Sønderby, Ida Elken; Kaufmann, Tobias; Walters, G. Bragi; 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; Cahn, Wiepke; Calhoun, Vince D.; Caspers, Svenja; Cavalleri, Gianpiero L.; Ching, Christopher R.K.; Cichon, Sven; Ciufolini, Simone; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E.; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J.C.; de Zubicaray, Greig I.; de Zwarte, Sonja M.C.; Delanty, Norman; den Braber, Anouk; Desrivieres, Sylvane; di Forti, Marta; Doherty, Joanne L.; Donohoe, Gary; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fisher, Simon E.; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Glahn, David C.; Grabe, Hans J.; Groenewold, Nynke A.; Gustafsson, Omar; Haavik, Jan; Håberg, Asta; Hashimoto, Ryota; Hehir-Kwa, Jayne Y.; Hibar, Derrek; Hillegers, Manon H.J.; Hoffmann, Per; Holleran, Laurena; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Ikeda, Masashi; Jacquemont, Sébastien; Jahanshad, Neda; Jockwitz, Christiane; Johansson, Stefan; Jönsson, Erik Gunnar; Kikuchi, Masataka; Knowles, Emma E.M.; Kwok, John B.; Le Hellard, Stephanie; Linden, David E.J.; Liu, Jingyu; Lundervold, Arvid; Lundervold, Astri; Martin, Nicholas G.; Mather, Karen A.; Mathias, Samuel R.; McMahon, Katie L.; McRae, Allan F.; Medland, Sarah E.; Moberget, Torgeir; Moreau, Clara; Morris, Derek W.; Mühleisen, Thomas W.; Murray, Robin M.; Nordvik, Jan Egil; Nyberg, Lars; Olde Loohuis, Loes M.; Ophoff, Roel A.; Owen, Michael J.; Paus, Tomáš; Pausova, Zdenka; Peralta, Juan M.; Pike, Bruce; Prieto, Carlos; Quinlan, Erin Burke; Reinbold, Céline Sonja; Reis Marques, Tiago; Rucker, James J.H.; Sachdev, Perminder S. 2019. Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA psychiatry. 11 sider.
  • Bradfield, Jonathan P.; Vogelezang, Suzanne; Felix, Janine F.; Chesi, Alessandra; Helgeland, Øyvind; Horikoshi, Momoko; Karhunen, Ville; Lowry, Estelle; Cousminer, Diana L.; Ahluwalia, Tarunveer S.; Thiering, Elisabeth; Boh, Eileen Tai-Hui; Zafarmand, Mohammad H.; Vilor-Tejedor, Natalia; Wang, Carol A.; Joro, Raimo; Chen, Zhanghua; Gauderman, William J.; Pitkänen, Niina; Parra, Esteban J.; Fernandez-Rhodes, Lindsay; Alyass, Akram; Monnereau, Claire; Curtin, John A.; Have, Christian T.; McCormack, Shana E.; Hollensted, Mette; Frithioff-Bøjsøe, Christine; Valladares-Salgado, Adan; Peralta-Romero, Jesus; Teo, Yik-Ying; Standl, Marie; Leinonen, Jaakko T.; Holm, Jens-Christian; Peters, Triinu; Vioque, Jesus; Vrijheid, Martine; Simpson, Angela; Custovic, Adnan; Vaudel, Marc; Canouil, Mickaël; Lindi, Virpi; Atalay, Mustafa; Kahonen, Mika; Raitakari, Olli T.; van Schaik, Barbera D.C.; Berkowitz, Robert I.; Cole, Shelley A.; Voruganti, V. Saroja; Wang, Yujie; Highland, Heather M.; Comuzzie, Anthony G.; Butte, Nancy F.; Justice, Anne E.; Gahagan, Sheila; Blanco, Estela; Lehtimäki, Terho; Lakka, Timo A.; Hebebrand, Johannes; Bonnefond, Amélie; Grarup, Niels; Froguel, Philippe; Lyytikäinen, Leo-Pekka; Cruz, Miguel; Kobes, Sayuko; Hanson, Robert L.; Zemel, Babette S.; Hinney, Anke; Teo, Koon K.; Meyre, David; North, Kari E.; Gilliland, Frank D.; Bisgaard, Hans; Bustamante, Mariona; Bønnelykke, Klaus; Pennell, Craig E.; Rivadeneira, Fernando; Uitterlinden, André G.; Baier, Leslie J.; Vrijkotte, Tanja G.M.; Heinrich, Joachim; Sørensen, Thorkild I.A.; Saw, Seang-Mei; Pedersen, Oluf; Hansen, Torben; Eriksson, Johan; Widén, Elisabeth; McCarthy, Mark I.; Njølstad, Pål Rasmus; Power, Christine; Hyppönen, Elina; Sebert, Sylvain; Brown, Christopher D.; Järvelin, Marjo-Riitta; Timpson, Nicholas J.; Johansson, Stefan; Hakonarson, Hakon; Jaddoe, Vincent W.V. 2019. A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Human Molecular Genetics. 3327-3338.
  • Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Maple-Grødem, Jodi; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos. 2018. Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders. 1591-1600.
  • Turcot, Valérie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia; Justice, Anne E.; Fine, Rebecca S.; Bradfield, Jonathan P.; Esko, Tonu; Giri, Ayush; Graff, Mariaelisa; Guo, Xiuqing; Hendricks, Audrey E.; Karaderi, Tugce; Lempradl, Adelheid; Locke, Adam E.; Mahajan, Anubha; Marouli, Eirini; Sivapalaratnam, Suthesh; Young, Kristin L.; Alfred, Tamuno; Feitosa, Mary F.; Masca, Nicholas G.D.; Manning, Alisa K.; Medina-Gomez, Carolina; Mudgal, Poorva; Ng, Maggie C.Y.; Reiner, Alex P.; Vedantam, Sailaja; Willems, Sara M.; Winkler, Thomas W.; Abecasis, Gonçalo R.; Aben, Katja K.; Alam, Dewan S.; Alharthi, Sameer E.; Allison, Matthew; Amouyel, Philippe; Asselbergs, Folkert W.; Auer, Paul L.; Balkau, Beverley; Bang, Lia E.; Barroso, Inês; Bastarache, Lisa; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F.; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A.; Bork-Jensen, Jette; Bots, Michiel L.; Bottinger, Erwin P.; Bowden, Donald W.; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H.; Broer, Linda; Brumat, Marco; Burt, Amber A.; Butterworth, Adam S.; Campbell, Peter T.; Cappellani, Stefania; Carey, David J.; Catamo, Eulalia; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y.; Cocca, Massimiliano; Collins, Francis S.; Cook, James P.; Corley, Janie; Corominas Galbany, Jordi; Cox, Amanda J.; Crosslin, David S.; Cuellar-Partida, Gabriel; D'Eustacchio, Angela; Danesh, John; Davies, Gail; Bakker, Paul I.W.; Groot, Mark C.H.; Mutsert, Renée; Deary, Ian J.; Dedoussis, George; Demerath, Ellen W.; Heijer, Martin; Hollander, Anneke I.; Ruijter, Hester M.; Dennis, Joe G.; Denny, Josh C.; Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dubé, Marie-Pierre; Dunning, Alison M.; Easton, Douglas F. 2018. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 26-41.
  • Smajlagic, Dinka; Jacobsen, Kaya Kvarme; Myrum, Craig; Haavik, Jan; Johansson, Stefan; Zayats, Tetyana. 2018. Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. Brain and Behavior. 1-12.
  • Corominas, Jordi; Klein, Marieke; Zayats, Tetyana; Rivero, Olga; Ziegler, Georg C.; Pauper, Marc; Neveling, Kornelia; Poelmans, Geert; Jansch, Charline; Svirin, Evgeniy; Geissler, Julia; Weber, Heike; Reif, Andreas; Arias Vasquez, Alejandro; Galesloot, Tessel E.; Kiemeney, Lambertus A.L.M.; Buitelaar, Jan K.; Ramos-Quiroga, Josep-Antoni; Cormand, Bru; Ribasés, Marta; Hveem, Kristian; Gabrielsen, Maiken Elvestad; Hoffmann, Per; Cichon, Sven; Haavik, Jan; Johansson, Stefan; Jacob, Christian P.; Romanos, Marcel; Franke, Barbara; Lesch, Klaus-Peter. 2018. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. Molecular Psychiatry. 11 sider.
  • Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter; Heimdal, Ketil Riddervold; Houge, Gunnar; Hufnagel, Sophia B.; Ji, Jianling; Johansson, Stefan; Kant, Sarina G.; Kinning, Esther; Leon, Eyby L.; Newbury-Ecob, Ruth; Paolacci, Stefano; Pfundt, Rolph; Ragge, Nicola K.; Rinne, Tuula; Ruivenkamp, Claudia; Saitta, Sulagna C.; Sun, Yu; Tartaglia, Marco; Terhal, Paulien A.; van Essen, Anthony J.; Vigeland, Magnus Dehli; Xiao, Bing; Hennekam, Raoul C. 2018. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. American Journal of Medical Genetics. Part A. 862-876.
  • Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K.; Walters, Raymond K.; Bras, Jose; Duncan, Laramie; Escott-Price, Valentina; Falcone, Guido; Gormley, Padhraig; Malik, Rainer; Patsopoulos, Nikolaos A.; Ripke, Stephan; Wei, Zhi; Yu, Dongmei; Lee, Phil H.; Turley, Patrick; Grenier-Boley, Benjamin; Chouraki, Vincent; Kamatani, Yoichiro; Berr, Claudine; Letenneur, Luc; Hannequin, Didler; Amouyel, Philippe; Boland, Anne; Deleuze, Jean-François; Duron, Emmanuelle; Vardarajan, Badri N.; Reitz, Christiane; Goate, Alison M.; Huentelman, Matthew; Kamboh, M. Ilyas; Larson, Eric B.; Rogaeva, Ekaterina; St George-Hyslop, Peter; Hakonarson, Hakon; Kukull, Walter A.; Farrer, Lindsay A.; Barnes, Lisa L.; Beach, Thomas G.; Demirci, F. Yesam; Head, Elizabeth; Hulette, Christine M.; Jicha, Gregory A.; Kauwe, John S.K.; Kaye, Jeffery A.; Leverenz, James B.; Levey, AIlan I.; Lieberman, Andrew P.; Pankratz, Vernon S.; Poon, Wayne W.; Quinn, Joseph F.; Saykin, Andrew J.; Schneider, Lon S.; Smith, Amanda G.; Sonnen, Joshua A.; Stern, Robert A.; Van Deerlin, Vivianna M.; Van Eldik, Linda J.; Harold, Denise; Russo, Giancarlo; Rubinsztein, David C.; Bayer, Anthony; Tsolaki, Magda; Proitsi, Petra; Fox, Nick C.; Hampel, Harald; Owen, Michael J.; Mead, Simon; Passmore, Peter; Morgan, Kevin; Nöthen, Markus M.; Rossor, Martin; Lupton, Michelle K.; Hoffmann, Per; Kornhuber, Johannes; Lawlor, Brian; McQuillin, Andrew; Al-Chalabi, Ammar; Bis, Joshua C; Ruiz, Agustin; Boada, Mercè; Seshadri, Sudha; Beiser, Alexa; Rice, Kenneth; van der Lee, Sven J.; De Jager, Philip L.; Geschwind, Daniel H.; Riemenschneider, Matthias; Riedel-Heller, Steffi; Rotter, Jerome I.; Ransmayr, Gerhard; Hyman, Bradley T.; Cruchaga, Carlos; Alegret, Montserrat; Winsvold, Bendik K S; Palta, Priit; Farh, Kai-How; Cuenca-Leon, Ester; Furlotte, Nicholas; Kurth, Tobias. 2018. Analysis of shared heritability in common disorders of the brain. Science. 15 sider.
  • Sagen, Jørn V.; Bjørkhaug, Lise; Haukanes, Bjørn Ivar; Grevle, Louise; Molnes, Janne; Nedrebø, Bjørn Gunnar; Søvik, Oddmund; Njølstad, Pål Rasmus; Johansson, Stefan; Molven, Anders. 2017. The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Research and Clinical Practice. 142-149.
  • Johansson, Bente Berg; Irgens, Henrik Underthun; Molnes, Janne; Sztromwasser, Pawel Szymon; Aukrust, Ingvild; Juliusson, Petur Benedikt; Søvik, Oddmund; Levy, Shawn; Skrivarhaug, Torild; Joner, Geir; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus. 2017. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
  • Merker, Sören; Reif, Andreas; Ziegler, Georg C.; Weber, Heike; Mayer, Ute; Ehlis, Ann-Christine; Conzelmann, Annette; Johansson, Stefan; Müller-Reible, Clemens; Nanda, Indrajit; Haaf, Thomas; Ullmann, Reinhard; Romanos, Marcel; Fallgatter, Andreas J.; Pauli, Paul; Strekalova, Tatyana; Jansch, Charline; Vasquez, Alejandro Arias; Haavik, Jan; Ribasès, Marta; Ramos-Quiroga, Josep Antoni; Buitelaar, Jan K.; Franke, Barbara; Lesch, Klaus-Peter. 2017. SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder. Journal of Child Psychology and Psychiatry and Allied Disciplines. 798-809.
  • Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina; Lo, Ken Sin; Wood, Andrew R.; Kjær, Troels R.; Fine, Rebecca S.; Lu, Yingchang; Schurmann, Claudia; Highland, Heather M.; Rüeger, Sina; Thorleifsson, Gudmar; Justice, Anne E.; Lamparter, David; Stirrups, Kathleen E.; Turcot, Valérie; Young, Kristin L.; Winkler, Thomas W.; Esko, Tonu; Karaderi, Tugce; Locke, Adam E.; Masca, Nicholas G.D.; Ng, Maggie C.Y.; Mudgal, Poorva; Rivas, Manuel A.; Vedantam, Sailaja; Mahajan, Anubha; Guo, Xiuqing; Abecasis, Goncalo; Aben, Katja K.; Adair, Linda S.; Alam, Dewan S.; Albrecht, Eva; Allin, Kristine H.; Allison, Matthew; Amouyel, Philippe; Appel, Emil V.; Arveiler, Dominique; Asselbergs, Folkert W.; Auer, Paul L.; Balkau, Beverley; Banas, Bernhard; Bang, Lia E.; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F.; Blüher, Matthias; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A.; Bonnycastle, Lori L.; Bork-Jensen, Jette; Bots, Michiel L.; Bottinger, Erwin P.; Bowden, Donald W.; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H.; Broer, Linda; Burt, Amber A.; Butterworth, Adam S.; Carey, David J.; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y.; Cocca, Massimiliano; Collins, Francis S.; Cook, James P.; Corley, Janie; Galbany, Jordi Corominas; Cox, Amanda J.; Cuellar-Partida, Gabriel; Danesh, John; Davies, Gail; de Bakker, Paul I.W.; De Borst, Gert J.; De Denus, Simon; De Groot, Mark C.H.; De Mutsert, Renée; Deary, Ian J.; Dedoussis, George; Demerath, Ellen W.; Den Hollander, Anneke I.; Dennis, Joe G.; Di Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dunning, Alison M.; Easton, Douglas F.; Ebeling, Tapani; Edwards, Todd L.; Ellinor, Patrick T.; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Faul, Jessica D. 2017. Rare and low-frequency coding variants alter human adult height. Nature. 186-190.
  • Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence. 2017. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
  • Shadrin, Alexey A.; Smeland, Olav Bjerkehagen; Zayats, Tetyana; Schork, Andrew J; Frei, Oleksandr; Bettella, Francesco; Witoelar, Aree; Li, Wen; Eriksen, Jon Alm; Krull, Florian; Djurovic, Srdjan; Faraone, Stephen V.; Reichborn-Kjennerud, Ted; Thompson, Wesley K; Johansson, Stefan; Haavik, Jan; Dale, Anders; Wang, Yunpeng; Andreassen, Ole Andreas. 2017. Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment. Journal of the American Academy of Child and Adolescent Psychiatry. 86-95.
  • Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Christensen, Anne Elisabeth; Leh, Sabine Maria; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackman, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre. 2017. Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 323-333.
  • Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild. 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 1-12.
  • 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. 2017. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
  • Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason; Molnes, Janne; Burtt, Noël; Molven, Anders; Groop, Leif; Altshuler, David; Johansson, Stefan; Bjørkhaug, Lise; Njølstad, Pål Rasmus. 2017. Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
  • Dalva, Monica; el Jellas, Khadija; Steine, Solrun; Johansson, Bente Berg; Ringdal, Monika; Torsvik, Janniche; Immervoll, Heike; Hoem, Dag; Laemmerhirt, Felix; Simon, Peter; Lerch, Markus M.; Johansson, Stefan; Njølstad, Pål Rasmus; Weiss, Frank Ulrich; Fjeld, Karianne; Molven, Anders. 2017. Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. Pancreatology (Print). 83-88.
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  • 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. 207-213.
  • 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. 1637-1644.
  • 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. 600-612.
  • 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. 6 sider.
  • 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. 34593-34605.
  • 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. 2318-2327.
  • 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. 418-423.
  • 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. 266-271.
  • 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. 55-64.
  • 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. 410-417.
  • 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. 656-664.
  • 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. 512-523.
  • 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. 1008-1015.
  • 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. 1033-1043.
  • 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. 449-458.
  • 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. 673-680.
  • 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. 1053-1066.
  • 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. 656-664.
  • 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. 926-934.
  • 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. 403-410.
  • 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. 120-124.
  • 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. 960-965.
  • 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. 58-65.
  • 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. 58-65.
  • Eide, Stig Åge; Ræder, Helge; Johansson, Stefan; Midthjell, Kristian; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
  • 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. 306-310.
  • Hertel, Jens Kristoffer; Johansson, Stefan; 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. 971-977.
  • 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. 1470-1475.
  • 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. 130-136.
  • 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.
  • 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. 3112-3117.
  • 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.
  • 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. 54-62.
  • 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. 130-140.
  • Ræder, Helge; Bjørkhaug, Lise; Johansson, Stefan; Mangseth, Kjersti; Sagen, Jørn V.; Hunting, Anne; Følling, Ivar; Johansen, Odd; Bjørgaas, Marit; Paus, Povel N.; 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. 1899-1903.
  • 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. 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. 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. 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. 46-53.
Vitenskapelig foredrag
  • Corfield, Elizabeth; Smajlagic, Dinka; Connoly, Siobhan; Hakonarsen, Hakon; Waldman, Irwin; Elia, Josephine; Heron, Elisabeth; Reichborn-Kjennerud, Ted; Haavik, Jan; Johansson, Stefan; Zayats, Tetyana. 2019. Parent-of-origin and maternal effects in attention deficit hyperactivity disorder.
  • Lie, Benedicte Alexandra; Johansson, Stefan; Akselsen, Hanne Elisabeth; Thorsby, Erik; Undlien, Dag Erik. 2000. Strategies to identify a novel gene, located in the extended HLA class I region, involved in the development of type 1 diabetes.
  • Johansson, Stefan; Lie, Benedicte Alexandra; Pociot, Flemming; Nerup, Jørn; Akselsen, Hanne Elisabeth; Thorsby, Erik; Undlien, Dag Erik. 2000. HLA class III associations in type 1 diabetes may be secondary to linkage disequilibrium with a susceptibility gene located telomeric of HLA-B.
Leserinnlegg
  • 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. 365-367.
Short communication
  • Lozić, Bernarda; Johansson, Stefan; Lovric Kojundzic, Sanja; Markić, Joško; Knappskog, Per; Hahn, Angelika F.; Boman, Helge. 2016. Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Annals of clinical and translational neurology. 876-883.
  • Melone, M; Pellegrino, M; Nolano, M; Habecker, B A; Johansson, Stefan; Nathanson, NM; Knappskog, Per; Hahn, AF; Boman, Helge. 2014. Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. . Annals of clinical and translational neurology. 926-932.
Mastergradsoppgave
  • Berger, Amund Holte. 2018. Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations.
Brev til redaktøren
  • Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos. 2018. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain. e16-e16.
Sammendrag/abstract
  • 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. S152-S152.
  • 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. 62-62.
  • 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. S186-S186.
  • 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. S26-S26.
  • 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. 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. S185-S185.
  • 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. S129-S129.
  • 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. S123-S123.
  • 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. S123-S124.
  • Vesterhus, Mette; Johansson, Stefan; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. S123-S123.
Poster
  • Johansson, Stefan; Halmøy, Anne; Halleland, Helene; Landaas, Elisabeth; Jacobsen, Kaya; Fasmer, Ole Bernt; Bergsholm, Per; Lundervold, Astri Johansen; Gillberg, Christopher; Hugdahl, Kenneth; Knappskog, Per Morten; Haavik, Jan. 2006. Genetic Analysis of Candidate Genes in Adult ADHD Patients from Norway.
Errata
  • Turcot, Valérie; Helgeland, Øyvind; Holmen, Oddgeir Lingaas; Johansson, Stefan; Njølstad, Pål Rasmus; Loos, Ruth J.F. 2018. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 766-767.
Vitenskapelig oversiktsartikkel/review
  • Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija; Gravdal, Anny; Valvatne, Monica Dalva; Tjora, Erling; Ræder, Helge; Kulkarni, Rohit Rajesh; Johansson, Stefan; Njølstad, Pål Rasmus; Molven, Anders. 2018. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. 12-19.
  • Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus. 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. 394-406.
  • Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Johansson, Stefan. 2015. The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). 9 sider.
  • Zayats, Tetyana; Johansson, Stefan; Haavik, Jan. 2015. Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes?
  • 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. 960-987.
  • Haavik, Jan; Halmøy, Anne; Hegvik, Tor-Arne; Johansson, Stefan. 2011. Maternal genotypes as predictors of offspring mental health; the next frontier of genomic medicine? 731-743.
  • Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund; Ræder, Helge; Johansson, Stefan; Molven, Anders. 2010. Fremskritt innen diabetesgenetikk. 1145-1149.

Se fullstendig oversikt over publikasjoner i CRIStin.

Publons:  https://publons.com/researcher/2802796/stefan-johansson/

Google sholar:  https://scholar.google.com/citations?user=dcsSXX4AAAAJ&hl=en

Updated list of publications:  https://www.ncbi.nlm.nih.gov/sites/myncbi/1p9Dt6cNilz5C/bibliography/40070095/public/?sort=date&direction=descending

Some selected publications:

1. Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grutzmann R, Mayerle J, Mossner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Ferec C, Witt H, Lerch MM, Njolstad PR, Johansson S, Molven A: A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nat Genet 47:518-522, 2015. IF 31.6

2. Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR: Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 38:54-62, 2006. IF 31.6

3. Hertel JK*, Johansson S*, Sonestedt E, Jonsson A, Lie RT, Platou CG, Nilsson PM, Rukh G, Midthjell K, Hveem K, Melander O, Groop L, Lyssenko V, Molven A, Orho-Melander M, Njolstad PR: 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, 2011. IF=8.1

4. Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njolstad PR: Exome sequencing and genetic testing for MODY. PLoS One 7:e38050, 2012. IF 4.4

5. Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Sovik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S*, Njolstad PR*: Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia 60:625-635, 2017, IF=6.2.

6. Heimdal K, Sanchez-Guixe M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjorkhaug L, Tallaksen CM, Knappskog PM, Johansson S: STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet J Rare Dis 9:146, 2014. IF=4.0

7. Halmoy A*, Johansson S*, Winge I, McKinney JA, Knappskog PM, Haavik J: Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Arch Gen Psychiatry 67:1033- 1043, 2010. IF=14.4

8. Flannick J, Johansson S, Njolstad PR: Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes. Nat Rev Endocrinol 12:394-406, 2016, IF:15

9. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R: Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res 28:1378-1385, 2013. IF=5.6

10. Rainger J*, Pehlivan D*, Johansson S*, Bengani H*, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga- Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, Uk10K, Baylor- Hopkins Center for Mendelian G, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR: Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94:915-923, 2014. IF=11.2

(* Shared first/last authorships).

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