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  • E-mailStefan.Johansson@uib.no
  • Phone+47 55 97 58 56
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen

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.

I lead the genetics studies in three reserch consortia: KG Jebsen center for Neuropsychiatric Disorders, KG Jebsen Center for Diabetes Research and the Genomics Group at the Dept of Clinical Science and Senter for Medical Genetics and Molecular Medicine.

Journal articles
  • 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; Vaudel, Marc; 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.; Murcia, Mario; Bustamante, Mariona; Bonas-Guarch, Silvia; Hougaard, David M.; Mercader, Josep M.; Linneberg, Allan; Schraut, Katharina E.; Lind, Penelope A.; Medland, Sarah E.; Shields, Beverley M.; Knight, Bridget A.; Chai, Jin-Fang; Panoutsopoulou, Kalliope; Bartels, Meike; Sanchez, Friman; Stokholm, Jakob; Torrents, David; Vinding, Rebecca K.; Willems, Sara M.; Atalay, Mustafa; Chawes, Bo L.; Kovacs, Peter; Prokopenko, Inga; Tuke, Marcus A.; Yaghootkar, Hanieh; Ruth, Katherine S.; Jones, Samuel E.; Loh, Po-Ru; Murray, Anna; Weedon, Michael N.; Tönjes, Anke; Stumvoll, Michael; Michaelsen, Kim F.; Eloranta, Aino-Maija; Lakka, Timo A.; van Duijn, Cornelia M.; Kiess, Wieland; Körner, Antje; Niinikoski, Harri; Pahkala, Katja; Raitakari, Olli T.; Jacobsson, Bo; Zeggini, Eleftheria; Dedoussis, George V.; Teo, Yik-Ying; Saw, Seang-Mei; Montgomery, Grant W.; Campbell, Harry; Wilson, James F.; Vrijkotte, Tanja G.M.; Vrijheid, Martine; de Geus, Eco J.C.N.; Hayes, M. Geoffrey; Kadarmideen, Haja N.; Holm, Jens-Christian; Beilin, Lawrence J.; Pennell, Craig E.; Heinrich, Joachim; Adair, Linda S.; Borja, Judith B.; Mohlke, Karen L.; Eriksson, Johan G.; Widén, Elisabeth; Hattersley, Andrew T.; Spector, Tim D.; Kähönen, Mika; Viikari, Jorma S.; Lehtimäki, Terho; Boomsma, Dorret I.; Sebert, Sylvain; Vollenweider, Peter; Sørensen, Thorkild I.A.; Bisgaard, Hans; Bønnelykke, Klaus; Murray, Jeffrey C.; Melbye, Mads; Nohr, Ellen A.; Mook-Kanamori, Dennis O.; Rivadeneira, Fernando; Hofman, Albert; Felix, Janine F.; Jaddoe, Vincent W V; Hansen, Torben; Pisinger, Charlotta; Vaag, Allan A.; Pedersen, Oluf; Uitterlinden, André G.; Järvelin, Marjo-Riitta; Power, Christine; Hyppönen, Elina; Scholtens, Denise M.; Lowe, William L.; Davey Smith, George; Timpson, Nicholas J.; Morris, Andrew P.; Wareham, Nicholas J.; Hakonarson, Hakon; Grant, Struan F.A.; Frayling, Timothy M.; Lawlor, Debbie A.; Njølstad, Pål Rasmus; Johansson, Stefan; Ong, Ken K.; McCarthy, Mark I.; Perry, John R.B.; Evans, David M.; Freathy, Rachel M. 2019. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics. 51: 804-814. doi: 10.1038/s41588-019-0403-1
  • 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; Ligthart, Lannie; Terwindt, Gisela M.; Freilinger, Tobias; Ran, Caroline; Gordon, Scott D.; Borck, Guntram; Adams, Hieab H.H.; Lehtimäki, Terho; Wedenoja, Juho; Buring, Julie E.; Schürks, Markus; Hrafnsdóttir, Maria; Hottenga, Jouke-Jan; Penninx, Brenda; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Martin, Nicholas G.; Montgomery, Grant W.; Kurki, Mitja I.; Hämäläinen, Eija; Huang, Hailiang; Huang, Jie; Sandor, Cynthia; Webber, Caleb; Muller-Myhsok, Bertram; Schreiber, Stefan; Salomaa, Veikko; Loehrer, Elizabeth; Göbel, Hartmut; Macaya, Alfons; Pozo-Rosich, Patricia; Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Metspalu, Andres; Kubisch, Christian; Ferrari, Michel D.; Belin, Andrea C.; van den Maagdenberg, Arn M.J.M.; Zwart, John-Anker; Boomsma, Dorret; Eriksson, Nicholas; Olesen, Jes; Chasman, Daniel I.; Nyholt, Dale R.; Avbersek, Andreja; Baum, Larry; Berkovic, Samuel; Bradfield, Jonathan; Buono, Russell; Catarino, Claudia B.; Cossette, Patrick; De Jonghe, Peter; Depondt, Chantal; Dlugos, Dennis; Ferraro, Thomas N.; French, Jacqueline; Hjalgrim, Helle; Jamnadas-Khoda, Jennifer; Kälviäinen, Reetta; Kunz, Wolfram S.; Lerche, Holger; Leu, Costin; Lindhout, Dick; Lo, Warren; Lowenstein, Daniel; McCormack, Mark; Møller, Rikke S.; Molloy, Anne; Ng, Ping-Wing; Oliver, Karen; Privitera, Michael; Radtke, Rodney; Ruppert, Ann-Kathrin; Sander, Thomas; Schachter, Steven; Schankin, Christoph; Scheffer, Ingrid; Schoch, Susanne; Sisodiya, Sanjay M.; Smith, Philip; Sperling, Michael; Striano, Pasquale; Surges, Rainer; Thomas, G. Neil; Visscher, Frank; Whelan, Christopher D.; Zara, Federico; Heinzen, Erin L.; Marson, Anthony; Becker, Felicitas; Stroink, Hans; Zimprich, Fritz; Gasser, Thomas; Gibbs, Raphael; Heutink, Peter; Martinez, Maria; Morris, Huw R.; Sharma, Manu; Ryten, Mina; Mok, Kin Y.; Pulit, Sara; Bevan, Steve; Holliday, Elizabeth; Attia, John; Battey, Thomas; Boncoraglio, Giorgio; Thijs, Vincent; Chen, Wei-Min; Mitchell, Braxton; Rothwell, Peter; Sharma, Pankaj; Sudlow, Cathie; Vicente, Astrid; Markus, Hugh; Kourkoulis, Christina; Pera, Joana; Raffeld, Miriam; Silliman, Scott; Perica, Vesna Boraska; Thornton, Laura M.; Huckins, Laura M.; Rayner, N. William; Lewis, Cathryn M.; Gratacos, Monica; Rybakowski, Filip; Keski-Rahkonen, Anna; Raevuori, Anu; Hudson, James I.; Reichborn-Kjennerud, Ted; Monteleone, Palmiero; Karwautz, Andreas; Mannik, Katrin; Baker, Jessica H.; O'Toole, Julie K.; Trace, Sara E.; Davis, Oliver S.P.; Helder, Sietske G.; Ehrlich, Stefan; Herpertz-Dahlmann, Beate; Danner, Unna N.; van Elburg, Annemarie A.; Clementi, Maurizio; Forzan, Monica; Docampo, Elisa; Lissowska, Jolanta; Hauser, Joanna; Tortorella, Alfonso; Maj, Mario; Gonidakis, Fragiskos; Tziouvas, Konstantinos; Papezova, Hana; Yilmaz, Zeynep; Wagner, Gudrun; Cohen-Woods, Sarah; Herms, Stefan; Julia, Antonio; Rabionet, Raquel; Dick, Danielle M.; Ripatti, Samuli; Andreassen, Ole Andreas; Espeseth, Thomas; Lundervold, Astri; Steen, Vidar Martin; Pinto, Dalila; Scherer, Stephen W.; Aschauer, Harald; Schosser, Alexandra; Alfredsson, Lars; Padyukov, Leonid; Halmi, Katherine A.; Mitchell, James; Strober, Michael; Bergen, Andrew W.; Kaye, Walter; Szatkiewicz, Jin Peng; Cormand, Bru; Ramos-Quiroga, Josep Antoni; Sánchez-Mora, Cristina; Ribasés, Marta; Casas, Miguel; Hervas, Amaia; Arranz, Maria Jesús; Haavik, Jan; Zayats, Tetyana; Johansson, Stefan; Williams, Nigel; Dempfle, Astrid; Rothenberger, Aribert; Kuntsi, Jonna; Oades, Robert D.; Banaschewski, Tobias; Franke, Barbara; Buitelaar, Jan K.; Vasquez, Alejandro Arias; Doyle, Alysa E.; Reif, Andreas; Lesch, Klaus-Peter; Freitag, Christine; Rivero, Olga; Palmason, Haukur; Romanos, Marcel; Langley, Kate; Rietschel, Marcella; Witt, Stephanie H.; Dalsgaard, Søren; Børglum, Anders D.; Waldman, Irwin; Wilmot, Beth; Molly, Nikolas; Bau, Claiton Henrique Dotto; Crosbie, Jennifer; Schachar, Russell; Loo, Sandra K.; McGough, James J.; Grevet, Eugenio H.; Medland, Sarah E.; Robinson, Elise; Weiss, Lauren A.; Bacchelli, Elena; Bailey, Anthony; Bal, Vanessa; Battaglia, Agatino; Betancur, Catalina; Bolton, Patrick; Cantor, Rita; Celestino-Soper, Patrícia; Dawson, Geraldine; De Rubeis, Silvia; Duque, Frederico; Green, Andrew; Klauck, Sabine M.; Leboyer, Marion; Levitt, Pat; Maestrini, Elena; Mane, Shrikant; Moreno-De-Luca, Daniel; Parr, Jeremy; Regan, Regina; Reichenberg, Abraham; Sandin, Sven; Vorstman, Jacob; Wassink, Thomas; Wijsman, Ellen; Cook, Edwin; Santangelo, Susan; Delorme, Richard; Rogé, Bernadette; Magalhaes, Tiago; Arking, Dan; Schulze, Thomas G.; Thompson, Robert C.; Strohmaier, Jana; Matthews, Keith; Melle, Ingrid; Morris, Derek; Blackwood, Douglas; McIntosh, Andrew; Bergen, Sarah E.; Schalling, Martin; Jamain, Stéphane; Maaser, Anna; Fischer, Sascha B.; Reinbold, Céline S.; Fullerton, Janice M.; Guzman-Parra, José; Mayoral, Fermin; Schofield, Peter R.; Cichon, Sven; Mühleisen, Thomas W.; Degenhardt, Franziska; Schumacher, Johannes; Bauer, Michael; Mitchell, Philip B.; Gershon, Elliot S.; Rice, John; Potash, James B.; Zandi, Peter P.; Craddock, Nick; Ferrier, I. Nicol; Alda, Martin; Rouleau, Guy A.; Turecki, Gustavo; Ophoff, Roel; Pato, Carlos; Anjorin, Adebayo; Stahl, Eli; Leber, Markus; Czerski, Piotr M.; Cruceanu, Cristiana; Jones, Ian R.; Posthuma, Danielle; Andlauer, Till F.M.; Forstner, Andreas J.; Streit, Fabian; Baune, Bernhard T.; Air, Tracy; Sinnamon, Grant; Wray, Naomi R.; MacIntyre, Donald J.; Porteous, David; Homuth, Georg; Rivera, Margarita; Grove, Jakob; Middeldorp, Christel M.; Hickie, Ian; Pergadia, Michele; Mehta, Divya; Smit, Johannes H.; Jansen, Rick; De Geus, Eco; Dunn, Erin; Li, Qingqin S.; Nauck, Matthias; Schoevers, Robert A.; Beekman, Aartjan T.F.; Knowles, James A.; Viktorin, Alexander; Arnold, Paul; Barr, Cathy L.; Bedoya-Berrio, Gabriel; Bienvenu, O. Joseph; Brentani, Helena; Burton, Christie; Camarena, Beatriz; Cappi, Carolina; Cath, Danielle; Cavallini, Maria; Cusi, Daniele; Darrow, Sabrina; Denys, Damiaan; Derks, Eske M.; Dietrich, Andrea; Fernandez, Thomas; Figee, Martijn; Freimer, Nelson; Gerber, Gloria; Grados, Marco; Greenberg, Erica; Hanna, Gregory L.; Hartmann, Andreas; Hirschtritt, Matthew E.; Hoekstra, Pieter J.; Huang, Alden; Huyser, Chaim; Illmann, Cornelia; Jenike, Michael; Kuperman, Samuel; Leventhal, Bennett; Lochner, Christine; Lyon, Gholson J.; Macciardi, Fabio; Madruga-Garrido, Marcos; Malaty, Irene A.; Maras, Athanasios; McGrath, Lauren; Miguel, Eurípedes C.; Mir, Pablo; Nestadt, Gerald; Nicolini, Humberto; Okun, Michael S.; Pakstis, Andrew; Paschou, Peristera; Piacentini, John; Pittenger, Christopher; Plessen, Kerstin; Ramensky, Vasily; Ramos, Eliana M.; Reus, Victor; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Roessner, Veit; Rosário, Maria; Samuels, Jack F.; Sandor, Paul; Stein, Dan J.; Tsetsos, Fotis; Van Nieuwerburgh, Filip; Weatherall, Sarah; Wendland, Jens R.; Wolanczyk, Tomasz; Worbe, Yulia; Zai, Gwyneth; Goes, Fernando S.; McLaughlin, Nicole; Nestadt, Paul S.; Grabe, Hans-Jörgen; Depienne, Christel; Konkashbaev, Anuar; Lanzagorta, Núria; Valencia-Duarte, Ana; Bramon, Elvira; Buccola, Nancy; Cahn, Wiepke; Cairns, Murray; Chong, Siow A.; Cohen, David; Crespo-Facorro, Benedicto; Crowley, James; Davidson, Michael; DeLisi, Lynn; Dinan, Timothy; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Haan, Lieuwe; Hougaard, David; Karachanak-Yankova, Sena; Khrunin, Andrey; Klovins, Janis; Kučinskas, Vaidutis; Keong, Jimmy Lee Chee; Limborska, Svetlana; Loughland, Carmel; Lonnqvist, Jouko; Maher, Brion; Mattheisen, Manuel; McDonald, Colm; Murphy, Kieran C.; Nenadic, Igor; Van Os, Jim; Pantelis, Christos; Pato, Michele; Petryshen, Tracey; Quested, Digby; Roussos, Panos; Sanders, Alan R.; Schall, Ulrich; Schwab, Sibylle G.; Sim, Kang; So, Hon-Cheong; Stogmann, Elisabeth; Subramaniam, Mythily; Toncheva, Draga; Waddington, John; Walters, James; Weiser, Mark; Cheng, Wei; Cloninger, Robert; Curtis, David; Gejman, Pablo V.; Henskens, Frans; Mattingsdal, Morten; Oh, Sang-Yun; Scott, Rodney; Webb, Bradley; Breen, Gerome; Churchhouse, Claire; Bulik, Cynthia M.; Daly, Mark; Dichgans, Martin; Faraone, Stephen V.; Guerreiro, Rita; Holmans, Peter; Kendler, Kenneth S.; Koeleman, Bobby; Mathews, Carol A.; Price, Alkes; Scharf, Jeremiah; Sklar, Pamela; Williams, Julie; Wood, Nicholas W.; Cotsapas, Chris; Palotie, Aarno; Smoller, Jordan W.; Sullivan, Patrick; Rosand, Jonathan; Corvin, Aiden; Neale, Benjamin M. 2018. Analysis of shared heritability in common disorders of the brain. Science. 360. 15 pages. doi: 10.1126/science.aap8757
  • 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 pages. doi: 10.1038/s41380-018-0210-6
  • 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. 141: e16-e16. doi: 10.1093/brain/awx378
  • 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. 33: 1591-1600. doi: 10.1002/mds.64
  • 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. Pancreatology (Print). 18: 12-19. doi: 10.1016/j.pan.2017.12.001
  • 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. 176: 862-876. doi: 10.1002/ajmg.a.38626
  • 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. doi: 10.1002/brb3.1144
  • 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. 50: 766-767. doi: 10.1038/s41588-018-0082-3
  • 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.; Edwards, Todd L.; Ellinghaus, David; Ellinor, Patrick T.; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Farooqi, I. Sadaf; Faul, Jessica D.; Fauser, Sascha; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C.; Ford, Ian; Fornage, Myriam; Franco, Oscar H.; Franke, Andre; Franks, Paul W.; Friedrich, Nele; Frikke-Schmidt, Ruth; Galesloot, Tessel E.; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Gibson, Jane; Giedraitis, Vilmantas; Gjesing, Anette P.; Gordon-Larsen, Penny; Gorski, Mathias; Grabe, Hans-Jörgen; Grant, Struan F.A.; Grarup, Niels; Griffiths, Helen L.; Grove, Megan L.; Gudnason, Vilmundur; Gustafsson, Stefan; Haessler, Jeff; Hakonarson, Hakon; Hammerschlag, Anke R.; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B.; Hattersley, Andrew T.; Have, Christian T.; Hayward, Caroline; He, Liang; Heard-Costa, Nancy L.; Heath, Andrew C.; Heid, Iris M.; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W.; Holmen, Oddgeir Lingaas; Hovingh, G. Kees; Howson, Joanna M.M.; Hu, Yao; Huang, Paul L.; Huffman, Jennifer E.; Ikram, M. Arfan; Ingelsson, Erik; Jackson, Anne U.; Jansson, Jan-Håkan; Jarvik, Gail P.; Jensen, Gorm B.; Jia, Yucheng; Johansson, Stefan; Jørgensen, Marit E.; Jørgensen, Torben; Jukema, J. 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  • 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)

Most important 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

2. Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR: SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet 93:150-157, 2013

3. Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM: Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med 366:1586-1595, 2012

4. 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

5. McKinney J, Johansson S, Halmoy A, Dramsdahl M, Winge I, Knappskog PM, Haavik J: A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Mol Psychiatry 13:365-367, 2008

6. 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

 

 

Selected papers from 2003-1015

7. Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA: Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration. EMBO Mol Med, 2015

8. Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Lovas K, Wolff AS, Abramson J, Husebye ES: Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity 42:1185-1196, 2015

9. Tzoulis C, Zayats T, Knappskog PM, Muller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K: HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci U S A 112:E2268, 2015

10. Zhang G, Bacelis J, Lengyel C, Teramo K, Hallman M, Helgeland O, Johansson S, Myhre R, Sengpiel V, Njolstad PR, Jacobsson B, Muglia L: Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Med 12:e1001865, 2015

11. Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsen T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa B, Johansson S, Jorgensen T, Jorgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segre AV, Skarstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njolstad PR, Pedersen O, Go TDC, Consortium TDG, Groop L, Cox DR, Stefansson K, Altshuler D: Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet 46:357-363, 2014

12. 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

13. 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

14. Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njolstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D: Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 45:1380-1385, 2013

15. 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

16. 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

17. 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

18. Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, M'Zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet 87:410-417, 2010

19. Oedegaard KJ, Greenwood TA, Johansson S, Jacobsen KK, Halmoy A, Fasmer OB, Akiskal HS, Haavik J, Kelsoe JR: A genome-wide association study of bipolar disorder and comorbid migraine. Genes Brain Behav 9:673-680, 2010

20. Hertel JK, Johansson S, Raeder H, Midthjell K, Lyssenko V, Groop L, Molven A, Njolstad PR: 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, 2008

21. Johansson S, Raeder H, Eide SA, Midthjell K, Hveem K, Sovik O, Molven A, Njolstad PR: 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, 2007

22. Raeder H, Bjorkhaug L, Johansson S, Mangseth K, Sagen JV, Hunting A, Folling I, Johansen O, Bjorgaas M, Paus PN, Sovik O, Molven A, Njolstad PR: 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, 2006

23. Johansson S, Lie BA, Todd JA, Pociot F, Nerup J, Cambon-Thomsen A, Kockum I, Akselsen HE, Thorsby E, Undlien DE: Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and -DRB1. Genes Immun 4:46-53, 2003

 

 

 

 

 

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)

 

Research groups