Home
Pål Rasmus Njølstad's picture

Pål Rasmus Njølstad

Head of Department
  • E-mailPal.Njolstad@uib.no
  • Phone+47 55 97 51 53
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Journal articles
  • Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njølstad, Pål Rasmus; Nohr, Ellen A.; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa-Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Sørensen, Thorkild I.A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Frayling, Timothy M.; Hivert, Marie-France; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M. 2018. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Human Molecular Genetics. 27: 742-756. doi: 10.1093/hmg/ddx429
  • Bowman, Pamela; Sulen, Åsta Nordsveen; Barbetti, Fabrizio; Beltrand, Jacques; Svalastoga, Pernille; Codner, Ethel; Tessmann, Ellen H.; Juliusson, Petur Benedikt; Skrivarhaug, Torild; Pearson, Ewan R.; Flanagan, Sarah E.; Babiker, Tarig; Thomas, Nicholas J.; Shepherd, Maggie H.; Ellard, Sian; Klimes, Iwar; Szopa, Magdalena; Polak, Michel; Iafusco, Dario; Hattersley, Andrew T.; Njølstad, Pål Rasmus. 2018. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. The Lancet Diabetes and Endocrinology. 6: 637-646. doi: 10.1016/S2213-8587(18)30106-2
  • Engjom, Trond; Kavaliauskiene, Giedre; Tjora, Erling; Erchinger, Friedemann Georg; Wathle, Gaute Kjellevold; Lærum, Birger Norderud; Njølstad, Pål Rasmus; Frøkjær, Jens Brøndum; Gilja, Odd Helge; Dimcevski, Georg Gjorgji; Haldorsen, Ingfrid S. 2018. Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI. PLoS ONE. 13:e0201019: 1-16. doi: 10.1371/journal.pone.0201019
  • Hattersley, Andrew T.; Greeley, Siri A.W.; Polak, Michel; Rubio-Cabezas, Oscar; Njølstad, Pål Rasmus; Mlynarski, Wojciech; Castaño, Luis; Carlsson, Annelie; Raile, Klemens; Chi, Dung Vu; Ellard, Sian; Craig, Maria E. 2018. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 19: 47-63. doi: 10.1111/pedi.12772
  • 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
  • Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild. 2018. The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports. 8. doi: 10.1038/s41598-018-29448-w
  • Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch. 2018. Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. International Journal of Epidemiology. 47: 417-426. doi: 10.1093/IJE/DYX266
  • Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi; Granström, Charlotta; Mårild, Karl Staffan; Ueland, Per Magne; Midttun, Øivind; Svensson, Jannet; Johannesen, Jesper; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch. 2018. Parental smoking and risk of childhood-onset type 1 diabetes. Epidemiology. 29: 848-856. doi: 10.1097/EDE.0000000000000911
  • Solheim, Marie Holm; Winnay, Jonathon N.; Batista, Thiago M.; Molven, Anders; Njølstad, Pål Rasmus; Kahn, C. Ronald. 2018. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. Diabetes. 67: 1297-1309. doi: 10.2337/db17-1509
  • Størdal, Ketil; McArdle, Harry J.; Hayes, Helen; Tapia, German; Viken, Marte K; Lund-Blix, Nicolai Andre; Haugen, Margaretha; Joner, Geir; Skrivarhaug, Torild; Mårild, Karl Staffan; Njølstad, Pål Rasmus; Eggesbø, Merete Åse; Mandal, Siddhartha; Page, Christian; London, Stephanie J.; Lie, Benedicte Alexandra; Stene, Lars Christian Mørch. 2018. Prenatal iron exposure and childhood type 1 diabetes. Scientific Reports. 8. doi: 10.1038/s41598-018-27391-4
  • Tapia, German; Størdal, Ketil; Mårild, Karl Staffan; Kahrs, Christian Riddervold; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Joner, Geir; Stene, Lars Christian Mørch. 2018. Antibiotics, acetaminophen and infections during prenatal and early life in relation to type 1 diabetes. International Journal of Epidemiology. 11 pages. doi: 10.1093/ije/dyy092
  • Thorsen, Steffen U.; Mårild, Karl Staffan; Olsen, Sjurdur Frodi; Holst, Klaus; Tapia, German; Granström, Charlotta; Halldorsson, Thorhallur Ingi; Cohen, Arieh S.; Haugen, Margaretha; Lundqvist, Marika; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Joner, Geir; Magnus, Per; Størdal, Ketil; Svensson, Jannet; Stene, Lars Christian Mørch. 2018. Lack of Association between Maternal or Neonatal Vitamin D Status and Risk of Childhood Type 1 Diabetes: A Scandinavian Case-Cohort Study. American Journal of Epidemiology. 187: 1174-1181. doi: 10.1093/aje/kwx361
  • 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, Stefan 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. Wouter; Kahali, Bratati; Kahn, René S.; Kähönen, Mika; Kamstrup, Pia R.; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon L.R.; Karpe, Fredrik; Kathiresan, Sekar; Kee, Frank; Kiemeney, Lambertus A.; Kim, Eric; Kitajima, Hidetoshi; Komulainen, Pirjo; Kooner, Jaspal S.; Kooperberg, Charles; Korhonen, Tellervo; Kovacs, Peter; Kuivaniemi, Helena; Kutalik, Zoltán; Kuulasmaa, Kari; Kuusisto, Johanna; Laakso, Markku; Lakka, Timo A.; Lamparter, David; Lange, Ethan M.; Lange, Leslie A.; Langenberg, Claudia; Larson, Eric B.; Lee, Nanette R.; Lehtimäki, Terho; Lewis, Cora E.; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Keng-Hung; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Ching-Ti; Liu, Dajiang J.; Liu, Yongmei; Lo, Ken S.; Lophatananon, Artitaya; Lotery, Andrew J.; Loukola, Anu; Luan, Jian'An; Lubitz, Steven A.; Lyytikäinen, Leo-Pekka; Männistö, Satu; Marenne, Gaëlle; Mazul, Angela L.; McCarthy, Mark I.; McKean-Cowdin, Roberta; Medland, Sarah E.; Meidtner, Karina; Milani, Lili; Mistry, Vanisha; Mitchell, Paul; Mohlke, Karen L.; Moilanen, Leena; Moitry, Marie; Montgomery, Grant W.; Mook-Kanamori, Dennis O.; Moore, Carmel; Mori, Trevor A.; Morris, Andrew D.; Morris, Andrew P.; Müller-Nurasyid, Martina; Munroe, Patricia B.; Nalls, Mike A.; Narisu, Narisu; Nelson, Christopher P.; Neville, Matt; Nielsen, Sune F.; Nikus, Kjell; Njølstad, Pål Rasmus; Nordestgaard, Børge G.; Nyholt, Dale R.; O'Connel, Jeffrey R.; O'Donoghue, Michelle L.; Olde Loohuis, Loes M.; Ophoff, Roel A.; Owen, Katharine R.; Packard, Chris J.; Padmanabhan, Sandosh; Palmer, Colin N.A.; Palmer, Nicholette D.; Pasterkamp, Gerard; Patel, Aniruddh P.; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L.; Peloso, Gina M.; Pennell, Craig E.; Perola, Markus; Perry, James A.; Perry, John R.B.; Pers, Tune H.; Person, Thomas N.; Peters, Annette; Petersen, Eva R.B.; Peyser, Patricia A.; Pirie, Ailith; Polasek, Ozren; Polderman, Tinca J.; Puolijoki, Hannu; Raitakari, Olli T.; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F.; Renström, Frida; Rheinberger, Myriam; Ridker, Paul M.; Rioux, John D.; Rivas, Manuel A.; Roberts, David J.; Robertson, Neil R.; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S.; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Sapkota, Yadav; Sattar, Naveed; Schoen, Robert E.; Schreiner, Pamela J.; Schulze, Matthias B.; Scott, Robert A.; Segura-Lepe, Marcelo P.; Shah, Svati H.; Sheu, Wayne H.-H.; Sim, Xueling; Slater, Andrew J.; Small, Kerrin S.; Smith, Albert V.; Southam, Lorraine; Spector, Timothy D.; Speliotes, Elizabeth K.; Starr, John M.; Stefansson, Kari; Steinthorsdóttir, Valgerdur; Stirrups, Kathleen E.; Strauch, Konstantin; Stringham, Heather M.; Stumvoll, Michael; Sun, Liang; Surendran, Praveen; Swift, Amy J.; Tada, Hayato; Tansey, Katherine E.; Tardif, Jean-Claude; Taylor, Kent D.; Teumer, Alexander; Thompson, Deborah J.; Thorleifsson, Gudmar; Thorsteinsdóttir, Unnur; Thuesen, Betina H.; Tonjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjærg-Hansen, Anne; Tyrer, Jonathan P.; Uher, Rudolf; Uitterlinden, André G.; Uusitupa, Matti; Laan, Sander W.; Duijn, Cornelia M.; Leeuwen, Nienke; Van Setten, Jessica; Vanhala, Mauno; Varbo, Anette; Varga, Tibor V.; Varma, Rohit; Velez Edwards, Digna R.; Vermeulen, Sita H.; Veronesi, Giovanni; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F.; Völker, Uwe; Vuckovic, Dragana; Wagenknecht, Lynne E.; Walker, Mark; Wallentin, Lars; Wang, Feijie; Wang, Carol A.; Wang, Shuai; Wang, Yiqin; Ware, Erin B.; Wareham, Nicholas J.; Warren, Helen R.; Waterworth, Dawn M.; Wessel, Jennifer; White, Harvey D.; Willer, Cristen J.; Wilson, James G.; Witte, Daniel R.; Wood, Andrew R.; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges-Armstrong, Laura M.; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zhou, Wei; Zondervan, Krina T.; Rotter, Jerome I.; Pospisilik, John A.; Rivadeneira, Fernando; Borecki, Ingrid B.; Deloukas, Panos; Frayling, Timothy M.; Lettre, Guillaume; North, Kari E.; Lindgren, Cecilia M.; Hirschhorn, Joel N.; Loos, Ruth J.F. 2018. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 50: 26-35. doi: 10.1038/s41588-017-0011-x
  • 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). 17: 83-88. doi: 10.1016/j.pan.2016.10.006
  • Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha; Teslovich, Tanya M.; Agarwala, Vineeta; Gaulton, Kyle J.; Caulkins, Lizz; Koesterer, Ryan; Ma, Clement; Moutsianas, Loukas; McCarthy, Davis J.; Rivas, Manuel A.; Perry, John R.B.; Sim, Xueling; Blackwell, Thomas W.; Robertson, Neil R.; Rayner, N. William; Cingolani, Pablo; Locke, Adam E.; Tajes, Juan Fernandez; Highland, Heather M.; Dupuis, Josée; Chines, Peter S.; Lindgren, Cecilia M.; Hartl, Christopher; Jackson, Anne U.; Chen, Han; Huyghe, Jeroen R.; Van De Bunt, Martijn; Pearson, Richard D.; Kumar, Ashish; Müller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M.; Gamazon, Eric R.; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A.; Below, Jennifer E.; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L.; Pasko, Dorota; Parker, Stephen C.J.; Varga, Tibor V.; Green, Todd; Beer, Nicola L.; Day-Williams, Aaron G.; Ferreira, Teresa; Fingerlin, Tasha; Horikoshi, Momoko; Hu, Cheng; Huh, Iksoo; Ikram, Mohammad Kamran; Kim, Bong-Jo; Kim, Yongkang; Kim, Young Jin; Kwon, Min-Seok; Lee, Juyoung; Lee, Selyeong; Lin, Keng-Han; Maxwell, Taylor J.; Nagai, Yoshihiko; Wang, Xu; Welch, Ryan P.; Yoon, Joon; Zhang, Weihua; Barzilai, Nir; Voight, Benjamin F.; Han, Bok-Ghee; Jenkinson, Christopher P.; Kuulasmaa, Teemu; Kuusisto, Johanna; Manning, Alisa; Ng, Maggie C.Y.; Palmer, Nicholette D.; Balkau, Beverley; Stančáková, Alena; Abboud, Hanna E.; Boeing, Heiner; Giedraitis, Vilmantas; Prabhakaran, Dorairaj; Gottesman, Omri; Scott, James; Carey, Jason; Kwan, Phoenix; Grant, George; Smith, Joshua D.; Neale, Benjamin M.; Purcell, Shaun; Butterworth, Adam S.; Howson, Joanna M.M.; Lee, Heung Man; Lu, Yingchang; Kwak, Soo-Heon; Zhao, Wei; Danesh, John; Lam, Vincent K.L.; Park, Kyong Soo; Saleheen, Danish; So, Wing Yee; Tam, Claudia H.T.; Afzal, Uzma; Aguilar, David; Arya, Rector; Aung, Tin; Chan, Edmund; Navarro, Carmen; Cheng, Ching-Yu; Palli, Domenico; Correa, Adolfo; Curran, Joanne E.; Rybin, Dennis; Farook, Vidya S.; Fowler, Sharon P.; Freedman, Barry I.; Griswold, Michael; Hale, Daniel Esten; Hicks, Pamela J.; Khor, Chiea-Chuen; Kumar, Satish; Lehne, Benjamin; Thuillier, Dorothée; Lim, Wei Yen; Liu, Jianjun; Loh, Marie; Musani, Solomon K.; Puppala, Sobha; Scott, William R.; Yengo, Loïc; Tan, Sian-Tsung; Taylor, Herman A.; Thameem, Farook; Wilson, Gregory; Wong, Tien Yin; Njølstad, Pål Rasmus; Levy, Jonathan C.; Mangino, Massimo; Bonnycastle, Lori L.; Schwarzmayr, Thomas; Fadista, João; Surdulescu, Gabriela L.; Herder, Christian; Groves, Christopher J.; Wieland, Thomas; Bork-Jensen, Jette; Brandslund, Ivan; Christensen, Cramer; Koistinen, Heikki A.; Doney, Alex S.F.; Kinnunen, Leena; Esko, Tõnu; Farmer, Andrew J.; Hakaste, Liisa; Hodgkiss, Dylan; Kravic, Jasmina; Lyssenko, Valeriya; Hollensted, Mette; Jørgensen, Marit E.; Jørgensen, Torben; Ladenvall, Claes; Justesen, Johanne Marie; Käräjämäki, Annemari; Kriebel, Jennifer; Rathmann, Wolfgang; Lannfelt, Lars; Lauritzen, Torsten; Narisu, Narisu; Linneberg, Allan; Melander, Olle; Milani, Lili; Neville, Matt; Orho-Melander, Marju; Qi, Lu; Qi, Qibin; Roden, Michael; Rolandsson, Olov; Swift, Amy; Rosengren, Anders H.; Stirrups, Kathleen; Wood, Andrew R.; Mihailov, Evelin; Blancher, Christine; Carneiro, Mauricio O.; Maguire, Jared; Poplin, Ryan; Shakir, Khalid; Fennell, Timothy; DePristo, Mark; de Angelis, Martin Hrabé; Deloukas, Panos; Gjesing, Anette P.; Jun, Goo; Nilsson, Peter M.; Murphy, Jacquelyn; Onofrio, Robert; Thorand, Barbara; Hansen, Torben; Meisinger, Christa; Hu, Frank B.; Isomaa, Bo; Karpe, Fredrik; Liang, Liming; Peters, Annette; Huth, Cornelia; O'Rahilly, Stephen P.; Palmer, Colin N.A.; Pedersen, Oluf; Rauramaa, Rainer; Tuomilehto, Jaakko; Salomaa, Veikko; Watanabe, Richard M.; Syvanen, Ann-Christine; Bergman, Richard N.; Bharadwaj, Dwaipayan; Bottinger, Erwin P.; Cho, Yoon Shin; Chandak, Giriraj R.; Chan, Juliana C.N.; Chia, Kee Seng; Daly, Mark J.; Ebrahim, Shah B.; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A.; Lehman, Donna M.; Jia, Weiping; Ma, Ronald C.W.; Pollin, Toni I.; Sandhu, Manjinder; Tandon, Nikhil; Froguel, Philippe; Barroso, Inês; Teo, Yik Ying; Zeggini, Eleftheria; Loos, Ruth J.F.; Small, Kerrin S.; Ried, Janina S.; DeFronzo, Ralph A.; Grallert, Harald; Glaser, Benjamin; Metspalu, Andres; Wareham, Nicholas J.; Walker, Mark; Banks, Eric; Gieger, Christian; Ingelsson, Erik; Im, Hae Kyung; Illig, Thomas; Franks, Paul W.; Buck, Gemma; Trakalo, Joseph; Buck, David; Prokopenko, Inga; Mägi, Reedik; Lind, Lars; Farjoun, Yossi; Owen, Katharine R.; Gloyn, Anna L.; Strauch, Konstantin; Tuomi, Tiinamaija; Kooner, Jaspal Singh; Lee, Jong-Young; Park, Taesung; Donnelly, Peter; Morris, Andrew D.; Hattersley, Andrew T.; Bowden, Donald W.; Collins, Francis S.; Atzmon, Gil; Chambers, John C.; Spector, Timothy D.; Laakso, Markku; Strom, Tim M.; Bell, Graeme; Blangero, John; Duggirala, Ravindranath; Tai, Eshyong; McVean, Gilean; Hanis, Craig L.; Wilson, James G.; Seielstad, Mark; Frayling, Timothy M.; Meigs, James B.; Cox, Nancy J.; Sladek, Rob; Lander, Eric S.; Gabriel, Stacey; Mohlke, Karen L.; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Scott, Laura J.; Morris, Andrew P.; Kang, Hyun Min; Altshuler, David; Burtt, Noël P.; Florez, Jose C.; Boehnke, Michael; McCarthy, Mark I. 2017. Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 4:170179: 1-20. doi: 10.1038/sdata.2017.179
  • Gagnum, Vibeke; Stene, Lars Christian; Jenssen, Trond Geir; Berteussen, Line Marie; Sandvik, Leiv; Joner, Geir; Njølstad, Pål Rasmus; Skrivarhaug, Torild. 2017. Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. Diabetic Medicine. 34: 56-63. doi: 10.1111/dme.13114
  • Johansson, Bente Berg; Fjeld, Karianne; Solheim, Marie Holm; Shirakawa, Jun; Zhang, Enming; Keindl, Magdalena; Hu, Jiang; Lindqvist, Andreas; Døskeland, Anne Marie Simonne; Mellgren, Gunnar; Flatmark, Torgeir; Njølstad, Pål Rasmus; Kulkarni, Rohit N.; Wierup, Nils; Aukrust, Ingvild; Bjørkhaug, Lise. 2017. Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. Molecular and Cellular Endocrinology. 454: 146-157. doi: 10.1016/j.mce.2017.06.020
  • 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. 60: 625-635. doi: 10.1007/s00125-016-4167-1
  • Kopczynski, Dominik; Barsnes, Harald; Njølstad, Pål Rasmus; Sickmann, Albert; Vaudel, Marc; Ahrends, Robert. 2017. PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. Bioinformatics. 33: 2042-2044. doi: 10.1093/bioinformatics/btx122
  • Lund-Blix, Nicolai Andre; Sander, Stine Dydensborg; Størdal, Ketil; Nybo Andersen, Anne-Marie; Rønningen, Kjersti Skjold; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Husby, Steffen; Stene, Lars Christian. 2017. Infant feeding and risk of type 1 diabetes in two large scandinavian birth cohorts. Diabetes Care. 40: 920-927. doi: 10.2337/dc17-0016
  • 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.; Feitosa, Mary F.; Feng, Shuang; Ferrannini, Ele; Ferrario, Marco M.; Ferrieres, Jean; Florez, Jose C; Ford, Ian; Fornage, Myriam; Franks, Paul W; Frikke-Schmidt, Ruth; Galesloot, Tessel E; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Giri, Ayush; Girotto, Giorgia; Gordon, Scott D; Gordon-Larsen, Penny; Gorski, Mathias; Grarup, Niels; Grove, Megan L; Gudnason, Vilmundur; Gustafsson, Stefan; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B; Hattersley, Andrew T; Hayward, Caroline; He, Liang; Heid, Iris M; Heikkilä, Kauko; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W; Hocking, Lynne J; Hollensted, Mette; Holmen, Oddgeir; Hovingh, G Kees; Howson, Joanna MM; Hoyng, Carel B; Huang, Paul L; Hveem, Kristian; Ikram, M Arfan; Ingelsson, Erik; Jackson, Anne U; Jansson, Jan-Håkan; Jarvik, Gail P; Jensen, Gorm B; Jhun, Min A; Jia, Yucheng; Jiang, Xuejuan; Johansson, Stefan; Jørgensen, Marit E.; Jørgensen, Torben; Jousilahti, Pekka; Jukema, J Wouter; Kahali, Bratati; Kahn, René S.; Kähönen, Mika; Kamstrup, Pia R; Kanoni, Stavroula; Kaprio, Jaakko; Karaleftheri, Maria; Kardia, Sharon LR; Karpe, Fredrik; Kee, Frank; Keeman, Renske; Kiemeney, Lambertus A; Kitajima, Hidetoshi; Kluivers, Kirsten B; Kocher, Thomas; Komulainen, Pirjo; Kontto, Jukka; Kooner, Jaspal S; Kooperberg, Charles; Kovacs, Peter; Kriebel, Jennifer; Kuivaniemi, Helena; Küry, Sébastien; Kuusisto, Johanna; La Bianca, Martina; Laakso, Markku; Lakka, Timo A; Lange, Ethan M; Lange, Leslie A; Langefeld, Carl D; Langenberg, Claudia; Larson, Eric B; Lee, I-Te; Lehtimaki, Terho; Lewis, Cora E; Li, Huaixing; Li, Jin; Li-Gao, Ruifang; Lin, Honghuang; Lin, Li-An; Lin, Xu; Lind, Lars; Lindström, Jaana; Linneberg, Allan; Liu, Yeheng; Liu, Yongmei; Lophatananon, Artitaya; Luan, Jian'an; Lubitz, Steven A; Lyytikainen, Leo-Pekka; MacKey, David A; Madden, Pamela AF; Manning, Alisa K; Männistö, Satu; Marenne, Gaëlle; Marten, Jonathan; Martin, Nicholas G; Mazul, Angela L; Meidtner, Karina; Metspalu, Andres; Mitchell, Paul; Mohlke, Karen L; Mook-Kanamori, Dennis O; Morgan, Anna; Morris, Andrew D; Morris, Andrew P; Müller-Nurasyid, Martina; Munroe, Patricia B; Nalls, Mike A; Nauck, Matthias; Nelson, Christopher P; Neville, Matt; Nielsen, Sune F; Nikus, Kjell; Njølstad, Pål Rasmus; Nordestgaard, Børge G.; Ntalla, Ioanna; O'Connel, Jeffrey R; Oksa, Heikki; Loohuis, Loes M Olde; Ophoff, Roel A; Owen, Katharine R; Packard, Chris J; Padmanabhan, Sandosh; Palmer, Colin NA; Pasterkamp, Gerard; Patel, Aniruddh P; Pattie, Alison; Pedersen, Oluf; Peissig, Peggy L; Peloso, Gina M; Pennell, Craig E; Perola, Markus; Perry, James A; Perry, John RB; Person, Thomas N; Pirie, Ailith; Polasek, Ozren; Posthuma, Danielle; Raitakari, Olli T; Rasheed, Asif; Rauramaa, Rainer; Reilly, Dermot F; Reiner, Alex P; Renstrom, Frida; Ridker, Paul M; Rioux, John D; Robertson, Neil; Robino, Antonietta; Rolandsson, Olov; Rudan, Igor; Ruth, Katherine S; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J; Sandow, Kevin; Sapkota, Yadav; Sattar, Naveed; Schmidt, Marjanka K; Schreiner, Pamela J; Schulze, Matthias B; Scott, Robert A; Segura-Lepe, Marcelo P; Shah, Svati; Sim, Xueling; Sivapalaratnam, Suthesh; Small, Kerrin S; Smith, Albert Vernon; Smith, Jennifer A; Southam, Lorraine; Spector, Timothy D; Speliotes, Elizabeth K; Starr, John M; Steinthorsdottir, Valgerdur; Stringham, Heather M; Stumvoll, Michael; Surendran, Praveen; Hart't, Leen M; Tansey, Katherine E; Tardif, Jean-Claude; Taylor, Kent D; Teumer, Alexander; Thompson, Deborah J; Thorsteinsdottir, Unnur; Thuesen, Betina H; Tönjes, Anke; Tromp, Gerard; Trompet, Stella; Tsafantakis, Emmanouil; Tuomilehto, Jaakko; Tybjærg-Hansen, Anne; Tyrer, Jonathan P; Uher, Rudolf; Uitterlinden, André G.; Ulivi, Sheila; Van Der Laan, Sander W; Van Der Leij, Andries R; Van Duijn, Cornelia M; Van Schoor, Natasja M; Van Setten, Jessica; Varbo, Anette; Varga, Tibor V; Varma, Rohit; Velez Edwards, Digna R; Vermeulen, Sita H; Vestergaard, Henrik; Vitart, Veronique; Vogt, Thomas F; Vozzi, Diego; Walker, Mark; Wang, Feijie; Wang, Carol A; Wang, Shuai; Wang, Yiqin; Wareham, Nicholas J; Warren, Helen R; Wessel, Jennifer; Willems, Sara M; Wilson, James G; Witte, Daniel R; Woods, Michael O; Wu, Ying; Yaghootkar, Hanieh; Yao, Jie; Yao, Pang; Yerges-Armstrong, Laura M; Young, Robin; Zeggini, Eleftheria; Zhan, Xiaowei; Zhang, Weihua; Zhao, Jing Hua; Zhao, Wei; Zheng, He; Zhou, Wei; Rotter, Jerome I; Boehnke, Michael; Kathiresan, Sekar; McCarthy, Mark I; Willer, Cristen J; Stefansson, Kari; Borecki, Ingrid B; Liu, Dajiang J; North, Kari E; Heard-Costa, Nancy L; Pers, Tune H; Lindgren, Cecilia M; Oxvig, Claus; Kutalik, Zoltán; Rivadeneira, Fernando; Loos, Ruth JF; Frayling, Timothy M; Hirschhorn, Joel N; Deloukas, Panos; Lettre, Guillaume. 2017. Rare and low-frequency coding variants alter human adult height. Nature. 542: 186-190. doi: 10.1038/nature21039
  • 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. 66: 335-346. doi: 10.2337/db16-0460
  • Rebnord, Eirik Wilberg; Strand, Elin; Midttun, Øivind; Svingen, Gard Frodahl Tveitevåg; Christensen, Monika; Ueland, Per Magne; Mellgren, Gunnar; Njølstad, Pål Rasmus; Tell, Grethe S.; Nygård, Ottar; Pedersen, Eva Ringdal. 2017. The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease. Diabetologia. 60: 1712-1721. doi: 10.1007/s00125-017-4329-9
  • 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. 133: 142-149. doi: 10.1016/j.diabres.2017.08.001
  • Solheim, Marie Holm; Clermont, Allen C.; Winnay, Jonathon N.; Hallstensen, Erlend; Molven, Anders; Njølstad, Pål Rasmus; Rødahl, Eyvind; Kahn, C. Ronald. 2017. Iris malformation and anterior segment dysgenesis in mice and humans with a mutation in PI 3-Kinase. Investigative Ophthalmology and Visual Science. 58: 3100-3106. doi: 10.1167/iovs.16-21347
  • Strand, Elin; Pedersen, Eva Ringdal; Svingen, Gard Frodahl Tveitevåg; Olsen, Thomas; Bjørndal, Bodil; Karlsson, Therese; Dierkes, Jutta; Njølstad, Pål Rasmus; Mellgren, Gunnar; Tell, Grethe S.; Berge, Rolf Kristian; Svardal, Asbjørn M.; Nygård, Ottar. 2017. Serum acylcarnitines and risk of cardiovascular death and acute myocardial infarction in patients with stable angina pectoris. Journal of the American Heart Association. 6:e003620: 1-28. doi: 10.1161/JAHA.116.003620
  • Vistnes, Maria; Tapia, German; Mårild, Karl Staffan; Midttun, Øivind; Ueland, Per Magne; Viken, Marte K; Magnus, Per; Berg, Jens Petter; Gillespie, Kathleen M; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Joner, Geir; Størdal, Ketil; Stene, Lars Christian Mørch. 2017. Plasma immunological markers in pregnancy and cord blood: A possible link between macrophage chemo-attractants and risk of childhood type 1 diabetes. American journal of reproductive immunology. 79. 11 pages. doi: 10.1111/aji.12802
  • Avila, Magali; Dyment, David A.; Sagen, Jørn V.; St-Onge, Judith; Moog, Ute; Chung, Brian Hon-Yin; Mo, S.; Mansour, Sahar; Albanese, Assunta; Garcia, Sixto; Martin, David Ortiz; Lopez, Ainhoa Abad; Claudi, Tor; König, Rainer; White, Susan M.; Sawyer, Sarah L.; Bernstein, Jon A.; Slattery, Leah; Jobling, Rebekah K.; Yoon, Grace; Curry, Cynthia J.; Le Merrer, Martine; Le Luyer, Bernard; Héron, Delphine; Mathieu-Dramard, Michèle; Bitoun, Pierre; Odent, Sylvie; Amiel, Jeanne; Kuentz, Paul; Thevenon, Julien; Laville, Martine; Reznik, Yves; Fagour, Cédric; Nunes, Marie-Laure; Delesalle, Dorothée; Manouvrier, Sylvie Hanu; Lascols, Olivier; Huet, Frédéric; Binquet, Christine; Faivre, Laurence; Rivière, Jean-Baptiste; Vigouroux, Corinne; Njølstad, Pål Rasmus; Innes, Allan Micheil; Thauvin-Robinet, Christel. 2016. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. Clinical Genetics. 89: 501-506. doi: 10.1111/cge.12688
  • Balamurugan, Kandasamy; Bjørkhaug, Lise; Mahajan, Swapnil; Kanthimathi, Sekar; Njølstad, Pål Rasmus; Srinivasan, Narayanaswamy; Mohan, Viswanathan; Radha, Venkatesan. 2016. Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. Clinical Genetics. 90: 486-495. doi: 10.1111/cge.12757
  • Fjeld, Karianne; Beer, Sebastian; Johnstone, Marianne; Zimmer, Constantin; Mössner, Joachim; Ruffert, Claudia; Krehan, Mario; Zapf, Christian; Njølstad, Pål Rasmus; Johansson, Stefan; Bugert, Peter; Miyajima, Fabio; Liloglou, Triantafillos; Brown, Laura J.; Winn, Simon A.; Davies, Kelly; Latawiec, Diane; Gunson, Bridget K.; Criddle, David N.; Pirmohamed, Munir; Grützmann, Robert; Michl, Patrick; Greenhalf, William; Molven, Anders; Sutton, Robert; Rosendahl, Jonas. 2016. Length of variable numbers of tandem repeats in the carboxyl ester lipase (CEL) gene may confer susceptibility to alcoholic liver cirrhosis but not alcoholic chronic pancreatitis. PLoS ONE. 11:e0165567. doi: 10.1371/journal.pone.0165567
  • Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus. 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. Nature Reviews Endocrinology. 12: 394-406. doi: 10.1038/nrendo.2016.50
  • Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M.; Mahajan, Anubha; Agarwala, Vineeta; Gaulton, Kyle J.; Ma, Clement; Fontanillas, Pierre; Moutsianas, Loukas; McCarthy, Davis J.; Rivas, Manuel A.; Perry, John R.B.; Sim, Xueling; Blackwell, Thomas W.; Robertson, Neil R.; Rayner, N. William; Cingolani, Pablo; Locke, Adam E.; Tajes, Juan Fernandez; Highland, Heather M.; Dupuis, Josee; Chines, Peter S.; Lindgren, Cecilia M.; Hartl, Christopher; Jackson, Anne U.; Chen, Han; Huyghe, Jeroen R.; Van De Bunt, Martijn; Pearson, Richard D.; Kumar, Ashish; Müller-Nurasyid, Martina; Grarup, Niels; Stringham, Heather M.; Gamazon, Eric R.; Lee, Jaehoon; Chen, Yuhui; Scott, Robert A.; Below, Jennifer E.; Chen, Peng; Huang, Jinyan; Go, Min Jin; Stitzel, Michael L.; Pasko, Dorota; Parker, Stephen C.J.; Varga, Tibor V.; Green, Todd; Beer, Nicola L.; Day-Williams, Aaron G.; Ferreira, Teresa; Fingerlin, Tasha; Horikoshi, Momoko; Hu, Cheng; Huh, Iksoo; Ikram, Mohammad Kamran; Kim, Bong-Jo; Kim, Yongkang; Kim, Young Jin; Kwon, Min-Seok; Lee, Juyoung; Lee, Selyeong; Lin, Keng-Han; Maxwell, Taylor J; Nagai, Yoshihiko; Wang, Xu; Welch, Ryan P; Yoon, Joon; Zhang, Weihua; Barzilai, Nir; Voight, Benjamin F; Han, Bok-Ghee; Jenkinson, Christopher P; Kuulasmaa, Teemu; Kuusisto, Johanna; Manning, Alisa; Ng, Maggie CY; Palmer, Nicholette D; Balkau, Beverley; Stancakova, Alena; Abboud, Hanna E; Boeing, Heiner; Giedraitis, Vilmantas; Prabhakaran, Dorairaj; Gottesman, Omri; Scott, James; Carey, Jason; Kwan, Phoenix; Grant, George; Smith, Joshua D; Neale, Benjamin M; Purcell, Shaun; Butterworth, Adam S; Howson, Joanna MM; Lee, Heung Man; Lu, Yingchang; Kwak, Soo-Heon; Zhao, Wei; Danesh, John; Lam, Vincent KL; Park, Kyong Soo; Saleheen, Danish; So, Wing Yee; Tam, Claudia HT; Afzal, Uzma; Aguilar, David; Arya, Rector; Aung, Tin; Chan, Edmund; Navarro, Carmen; Cheng, Ching-Yu; Palli, Domenico; Correa, Adolfo; Curran, Joanne E; Rybin, Denis; Farook, Vidya S; Fowler, Sharon P; Freedman, Barry I; Griswold, Michael; Hale, Daniel Esten; Hicks, Pamela J; Khor, Chiea-Chuen; Kumar, Satish; Lehne, Benjamin; Thuillier, Dorothee; Lim, Wei Yen; Liu, Jianjun; Van Der Schouw, Yvonne T; Loh, Marie; Musani, Solomon K; Puppala, Sobha; Scott, William R; Yengo, Loic; Tan, Sian-Tsung; Taylor, Herman A; Thameem, Farook; Wilson, Gregory; Wong, Tien Yin; Njølstad, Pål Rasmus; Levy, Jonathan C; Mangino, Massimo; Bonnycastle, Lori L; Schwarzmayr, Thomas; Fadista, Joao; Surdulescu, Gabriela L; Herder, Christian; Groves, Christopher J; Wieland, Thomas; Bork-Jensen, Jette; Brandslund, Ivan; Christensen, Cramer; Koistinen, Heikki A; Doney, Alex SF; Kinnunen, Leena; Esko, Tonu; Farmer, Andrew J; Hakaste, Liisa; Hodgkiss, Dylan; Kravic, Jasmina; Lyssenko, Valeriya; Hollensted, Mette; Jorgensen, Marit E; Jorgensen, Torben; Ladenvall, Claes; Justesen, Johanne Marie; Käräjämäki, Annemari; Kriebel, Jennifer; Rathmann, Wolfgang; Lannfelt, Lars; Lauritzen, Torsten; Narisu, Narisu; Linneberg, Allan; Melander, Olle; Milani, Lili; Neville, Matt; Orho-Melander, Marju; Qi, Lu; Qi, Qibin; Roden, Michael; Rolandsson, Olov; Swift, Amy; Rosengren, Anders H; Stirrups, Kathleen; Wood, Andrew R; Mihailov, Evelin; Blancher, Christine; Carneiro, Mauricio O; Maguire, Jared; Poplin, Ryan; Shakir, Khalid; Fennell, Timothy; DePristo, Mark; De Angelis, Martin Hrabe; Deloukas, Panos; Gjesing, Anette P; Jun, Goo; Nilsson, Peter; Murphy, Jacquelyn; Onofrio, Robert; Thorand, Barbara; Hansen, Torben; Meisinger, Christa; Hu, Frank B; Isomaa, Bo; Karpe, Fredrik; Liang, Liming; Peters, Annette; Huth, Cornelia; O'Rahilly, Stephen P; Palmer, Colin NA; Pedersen, Oluf; Rauramaa, Rainer; Tuomilehto, Jaakko; Salomaa, Veikko; Watanabe, Richard M; Syvänen, Ann-Christine; Bergman, Richard N; Bharadwaj, Dwaipayan; Bottinger, Erwin P; Cho, Yoon Shin; Chandak, Giriraj R; Chan, Juliana CN; Chia, Kee Seng; Daly, Mark J; Ebrahim, Shah B; Langenberg, Claudia; Elliott, Paul; Jablonski, Kathleen A; Lehman, Donna M; Jia, Weiping; Ma, Ronald CW; Pollin, Toni I; Sandhu, Manjinder; Tandon, Nikhil; Froguel, Philippe; Barroso, Ines; Teo, Yik Ying; Zeggini, Eleftheria; Loos, Ruth JF; Small, Kerrin S; Ried, Janina S; DeFronzo, Ralph A; Grallert, Harald; Glaser, Benjamin; Metspalu, Andres; Wareham, Nicholas J; Walker, Mark; Banks, Eric; Gieger, Christian; Ingelsson, Erik; Im, Hae Kyung; Illig, Thomas; Franks, Paul W; Buck, Gemma; Trakalo, Joseph; Buck, David; Prokopenko, Inga; Mägi, Reedik; Lind, Lars; Farjoun, Yossi; Owen, Katharine R; Gloyn, Anna L; Strauch, Konstantin; Tuomi, Tiinamaija; Kooner, Jaspal Singh; Lee, Jong-Young; Park, Taesung; Donnelly, Peter; Morris, Andrew D; Hattersley, Andrew T; Bowden, Donald W; Collins, Francis S; Atzmon, Gil; Chambers, John C; Spector, Timothy D; Laakso, Markku; Strom, Tim M; Bell, Graeme I; Blangero, John; Duggirala, Ravindranath; Tai, E Shyong; McVean, Gilean; Hanis, Craig L; Wilson, James G; Seielstad, Mark; Frayling, Timothy M; Meigs, James B; Cox, Nancy J; Sladek, Rob; Lander, Eric S; Gabriel, Stacey; Burtt, Noel P; Mohlke, Karen L; Meitinger, Thomas; Groop, Leif; Abecasis, Goncalo; Florez, Jose C; Scott, Laura J; Morris, Andrew P; Kang, Hyun Min; Boehnke, Michael; Altshuler, David; McCarthy, Mark I. 2016. The genetic architecture of type 2 diabetes. Nature. 536: 41-47. doi: 10.1038/nature18642
  • Kaur, Simranjeet; Mirza, Aashiq H.; Brorsson, Caroline A.; Fløyel, Tina; Størling, Joachim; Mortensen, Henrik B.; Pociot, Flemming; Njølstad, Pål Rasmus. 2016. The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. Molecular and Cellular Endocrinology. 419: 83-91. doi: 10.1016/j.mce.2015.10.002
  • Lek, M; Aggregation Consortium, Exome; Njølstad, Pål Rasmus; Najmi, Laeya Abdoli; Aukrust, Ingvild; Bjørkhaug, Lise. 2016. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 18: 285-291.
  • Madzak, Adnan; Engjom, Trond; Wathle, Gaute Kjellevold; Olesen, Søren Schou; Tjora, Erling; Njølstad, Pål Rasmus; Lærum, Birger Norderud; Drewes, Asbjørn Mohr; Dimcevski, Georg Gjorgji; Frøkjær, Jens Brøndum; Haldorsen, Ingfrid S. 2016. Secretin-stimulated MRI assessment of exocrine pancreatic function in patients with cystic fibrosis and healthy controls. Abdominal Radiology. Published ahead of print: 1-10. doi: 10.1007/s00261-016-0972-8
  • Molven, Anders; Hollister-Lock, Jennifer; Hu, Jiang; Martinez, Rachael; Njølstad, Pål Rasmus; Liew, Chong Wee; Weir, Gordon; Kulkarni, Rohit N. 2016. The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. Diabetes. 65: 1672-1678. doi: 10.2337/db15-1475
  • Svingen, Gard Frodahl Tveitevåg; Schartum-Hansen, Hall; Pedersen, Eva Ringdal; Ueland, Per Magne; Tell, Grethe Seppola; Mellgren, Gunnar; Njølstad, Pål Rasmus; Seifert, Reinhard; Strand, Elin; Karlsson, Therese; Nygård, Ottar. 2016. Prospective associations of systemic and urinary choline metabolites with incident type 2 diabetes. Clinical Chemistry. 62: 755-765. doi: 10.1373/clinchem.2015.250761
  • Winnay, Jonathon N.; Solheim, Marie Holm; Dirice, Ercument; Sakaguchi, Masaji; Noh, Hye-Lim; Kang, Hee Joon; Takahashi, Hirokazu; Chudasama, Kishan Kumar; Kim, Jason K.; Molven, Anders; Kahn, C. Ronald; Njølstad, Pål Rasmus. 2016. PI3-kinase mutation linked to insulin and growth factor resistance in vivo. Journal of Clinical Investigation. 126: 1401-1412. doi: 10.1172/JCI84005
  • Fjeld, Karianne; Weiss, Frank Ulrich; Lasher, Denise; Rosendahl, Jonas; Chen, Jian-Min; Johansson, Bente Berg; Kirsten, Holger; Ruffert, Claudia; Masson, Emmanuelle; Steine, Solrun; Bugert, Peter; Cnop, Miriam; Grützmann, Robert; Mayerle, Julia; Mössner, Joachim; Ringdal, Monika; Schulz, Hans-Ulrich; Sendler, Matthias; Simon, Peter; Sztromwasser, Pawel Szymon; Torsvik, Janniche; Scholz, Markus; Tjora, Erling; Férec, Claude; Witt, Heiko; Lerch, Markus M.; Njølstad, Pål Rasmus; Johansson, Stefan; Molven, Anders. 2015. A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 47: 518-522. doi: 10.1038/ng.3249
  • Gagnum, Vibeke; Stene, Lars Christian; Sandvik, Leiv; Fagerland, Morten; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild. 2015. All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973–2013. Diabetologia. 58: 1779-1786. doi: 10.1007/s00125-015-3623-7
  • 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). International Journal of Endocrinology. 2015. 9 pages. doi: 10.1155/2015/164652
  • Irgens, Henrik Underthun; Fjeld, Karianne; Johansson, Bente Berg; Ringdal, Monika; Immervoll, Heike; Leh, Sabine Maria; Søvik, Oddmund; Johansson, Stefan; Molven, Anders; Njølstad, Pål Rasmus. 2015. Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Journal of Clinical Endocrinology and Metabolism. 100: E767-E775. doi: 10.1210/jc.2014-4337
  • Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Joner, Geir; Skrivarhaug, Torild; Svensson, Jannet; Johannesen, Jesper; Njølstad, Pål Rasmus; Magnus, Per; Størdal, Ketil; Stene, Lars Christian. 2015. Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. JAMA pediatrics. 169: 1-8. doi: 10.1001/jamapediatrics.2015.3759
  • Molven, Anders; Njølstad, Pål Rasmus; Weiss, Frank Ulrich. 2015. Lipase gene fusion: a new route to chronic pancreatitis. OncoTarget. 6: 30443-30444. doi: 10.18632/oncotarget.5454
  • Rozenkova, Klara; Malikova, Jana; Nessa, Azizun; Dusatkova, Lenka; Bjørkhaug, Lise; Obermannova, Barbora; Dusatkova, Petra; Kytnarova, Jitka; Aukrust, Ingvild; Najmi, Laeya Abdoli; Rypackova, Blanka; Sumnik, Zdenek; Lebl, Jan; Njølstad, Pål Rasmus; Hussain, Khalid; Pruhova, Stepanka. 2015. High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 100: E1540-E1549. doi: 10.1210/jc.2015-2763
  • Zhang, Ge; Bacelis, Jonas; Lengyel, Candice; Teramo, Kari; Hallman, Mikko; Helgeland, Øyvind; Johansson, Stefan; Myhre, Ronny; Sengpiel, Verena; Njølstad, Pål Rasmus; Jacobsson, Bo; Muglia, Louis. 2015. Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 12. 23 pages. doi: 10.1371/journal.pmed.1001865
  • Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Bjørkhaug, Lise; Burtt, Noël P.; Mercader, Josep P.; García-Ortiz, Humberto; Huerta-Chagoya, Alicia; Moreno-Macías, Hortensia; Walford, Geoffrey; Flannick, Jason; Williams, Amy L.; Gómez-Vázquez, Maria J.; Fernandez-Lopez, Juan C.; Martínez-Hernández, Angélica; Jiménez-Morales, Silvia; Centeno-Cruz, Federico; Mendoza-Caamal, Elvia; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio; Córdova, Emilio J.; Soberón, Xavier; González-Villalpando, María E.; Henderson, Brian E.; Wilkens, Lynne R; Le Marchand, Loic; Arellano-Campos, Olimpia; Ordóñez-Sánchez, Maria L.; Rodríguez-Torres, Maribel; Rodríguez-Guillén, Rosario; Riba, Laura; Najmi, Laeya Abdoli; Jacobs, Susanne B.R.; Fennell, Timothy; Gabriel, Stacey; Fontanillas, Pierre; Hanis, Craig L; Lehman, Donna M.; Jenkinson, Christopher; Abboud, Hanna E.; Bell, Graeme I.; Cortes, Maria L.; Boehnke, Michael; González-Villalpando, Clicerio; Orozco, Lorena; Haiman, Christopher A.; Tusié-Luna, Teresa; Aguilar-Salinas, Carlos A.; Altshuler, David; Njølstad, Pål Rasmus; Florez, Jose C.; MacArthur, Daniel G. 2014. Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. Journal of the American Medical Association (JAMA). 311: 2305-2314. doi: 10.1001/jama.2014.6511
  • 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
  • Negahdar, Maria; Aukrust, Ingvild; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Sagen, Jørn V.; Dahl-Jørgensen, Knut; Kulkarni, Rohit Rajesh; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise. 2014. GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 382: 55-65. doi: 10.1016/j.mce.2013.08.020
  • Rubio-Cabezas, Oscar; Hattersley, Andrew T.; Njølstad, Pål Rasmus; Mlynarski, Wojciech; Ellard, Sian; White, Neil; Chi, Dung Vu; Craig, Maria E. 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 15: 47-64. doi: 10.1111/pedi.12192
  • Ræder, Helge; McAllister, Fiona E.; Tjora, Erling; Bhatt, Sheweta; Haldorsen, Ingfrid S.; Hu, Jiang; Willems, Stefan M.; Vesterhus, Mette; El Ouaamari, Abdelfattah; Liu, Manway; Ræder, Maria B; Immervoll, Heike; Hoem, Dag; Dimcevski, Georg Gjorgji; Njølstad, Pål Rasmus; Molven, Anders; Gygi, Steven P.; Kulkarni, Rohit N. 2014. Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid. Diabetes. 63: 259-269. doi: 10.2337/db13-1012
  • Torsvik, Janniche; Johansson, Bente Berg; Dalva, Monica; Marie, Michael Bruno Eric; Fjeld, Karianne; Johansson, Stefan; Bjørkøy, Geir; Saraste, Jaakko; Njølstad, Pål Rasmus; Molven, Anders. 2014. Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 289: 29097-29111. doi: 10.1074/jbc.M114.574244
  • Wathle, Gaute K; Tjora, Erling; Ersland, Lars; Dimcevski, Georg Gjorgji; Salvesen, Øyvind; Molven, Anders; Njølstad, Pål Rasmus; Haldorsen, Ingfrid S. 2014. Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. Journal of Magnetic Resonance Imaging. 39: 448-454. doi: 10.1002/jmri.24167
  • Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria; Molnes, Janne; Johansson, Bente Berg; Müller, Yvonne; Haas, Wilhelm; Gygi, Steven P.; Søvik, Oddmund; Flatmark, Torgeir; Kulkarni, Rohit N; Njølstad, Pål Rasmus. 2013. SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 288: 5951-5962. doi: 10.1074/jbc.M112.393769
  • Cameron, Fergus; de Beaufort, Carine; Aanstoot, HJ; Hoey, Hilary; Lange, Karin; Castaño, Luis; Mortensen, HB; Njølstad, Pål Rasmus; Hvidøre Study Group, [Mangler fornavn]; Aman, Jan; Atchison, J. A.; Barret, T; Bjørndalen, Hilde; Cameron, F J; Castro-Correia, C; Chiarelli, F.; Chiari, G; Dahl-Jørgensen, Knut; Daneman, D.; Danne, T.; Dorchy, Harry; Fisher, L; Kaufman, Francine; Garandeau, Patrick; Greene, Stephanie; Holl, R; Hougaard, P; Jarosz-Chobot, P; Kaprio, Eero A; Kitasato, NM; Kocova, M.; Lebenthal, Y; Martul, Pedro; Meier, LK; Neu, Andreas; Palmert, M; Phillips, M; Pociot, F; Robert, JJ; Robertson, KJ; Roche, Erin; Schoenle, E.; Shalitin, S; Skinner, TC; Skovlund, Søren E.; Søvik, Oddmund; Swift, Peter G F; Tsou, Rosa M; Urakami, Tatsuhiko; Vanelli, Maurizio. 2013. Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. Pediatric Diabetes. 14: 473-480. doi: 10.1111/pedi.12036
  • 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
  • Due, P.; de Beaufort, Carine; Damsgaard, MT; Mortensen, HB; Rasmussen, M; Ahluwalia, Namanjeet; Skinner, TC; Swift, Peter GF; Njølstad, Pål Rasmus; Cameron, Fergus; Dorchy, Harry; Daneman, Denis; Mortensen, Henrik B.; Kaprio, Eero A.; Robert, Jean-Jacques; Danne, Thomas; Neu, Andreas; Aanstoot, Henk-Jan; Hoey, Hilary; Phillip, Moshe; Vanelli, Maurizio; Chiarelli, Francesco; Urakami, Tatsuhiko; Kocova, Mirjana; Castaño, Luis; Åman, Jan; Schönle, Eugen J.; Swift, Peter; Robertson, Kenneth J.; Barrett, Timothy G.; Fisher, Lynda K.; Skovlund, Søren E. 2013. Do eating behaviors in the general population account for country variance in glycemic control among adolescents with diabetes: the Hvidoere Study Group and the Health Behaviour in School-Aged Children study. Pediatric Diabetes. 14: 554-561. doi: 10.1111/pedi.12038
  • 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
  • Elbarbary, Nancy S.; Tjora, Erling; Molnes, Janne; Lie, Benedicte Alexandra; Habib, Mohammad A.; Salem, Mona A.; Njølstad, Pål Rasmus. 2013. An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatric Diabetes. 14: 466-472. doi: 10.1111/j.1399-5448.2012.00925.x
  • 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
  • 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.
  • Irgens, Henrik Underthun; Molnes, Janne; Johansson, Bente Berg; Ringdal, Monika; Skrivarhaug, Torild; Undlien, Dag Erik; Søvik, Oddmund; Joner, Geir; Molven, Anders; Njølstad, Pål Rasmus. 2013. Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia. 56: 1512-1519. doi: 10.1007/s00125-013-2916-y
  • Jahnavi, S; Poovazhagi, V; Mohan, V; Bodhini, D; Raghupathy, P; Amutha, A; Suresh Kumar, P; Adhikari, P; Shriraam, M; Kaur, T; Das, AK; Molnes, Janne; Njølstad, Pål Rasmus; Unnikrishnan, R; Radha, V. 2013. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical Genetics. 83: 439-445. doi: 10.1111/j.1399-0004.2012.01939.x
  • 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.
  • Njølstad, Pål Rasmus. 2013. De tunge barna. Bergens Tidende. Published 2013-07-29.
  • 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
  • Ræder, Helge; Vesterhus, Mette; El Ouaamari, Abdelfattah; Paulo, Joao A.; McAllister, Fiona E.; Liew, Chong Wee; Hu, Jiang; Kawamori, Dan; Molven, Anders; Gygi, Steven P.; Njølstad, Pål Rasmus; Kahn, C. Ronald; Kulkarni, Rohit N. 2013. Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (Maturity-Onset Diabetes of the young). PLoS ONE. 8. 11 pages. doi: 10.1371/journal.pone.0060229
  • Sherif, Eman M.; Abdelmaksoud, Abeer A.; Elbarbary, Nancy S.; Njølstad, Pål Rasmus. 2013. An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. Acta Diabetologica. 50: 801-805. doi: 10.1007/s00592-010-0217-1
  • Søvik, Oddmund; Irgens, Henrik Underthun; Molnes, Janne; Sagen, Jørn V.; Bjørkhaug, Lise; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2013. Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi. 23: 55-60.
  • Teo, Adrian K.K.; Windmueller, Rebecca; Johansson, Bente Berg; Dirice, Ercument; Njølstad, Pål Rasmus; Tjora, Erling; Ræder, Helge; Kulkarni, Rohit N. 2013. Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. Journal of Biological Chemistry. 288: 5353-5356. doi: 10.1074/jbc.C112.428979
  • Thanabalasingham, Gaya; Huffman, Jennifer; Kattla, Jayesh J.; Novokmet, Mislav; Rudan, Igor; Gloyn, Anna L.; Hayward, Caroline; Adamczyk, Barbara; Reynolds, Rebecca M.; Muzinic, Ana; Hassanali, Neelam; Pucic, Maja; Bennett, Amanda J.; Essafi, Abdelkader; Polasek, Ozren; Mughal, Saima A.; Redzic, Irma; Primorac, Dragan; Zgaga, Lina; Kolcic, Ivana; Hansen, Torben; Gašperíková, Daniela; Tjora, Erling; Strachan, Mark W. J.; Nielsen, Trine; Stanik, Juraj; Klimes, Iwar; Pedersen, Oluf; Njølstad, Pål Rasmus; Wild, Sarah H.; Gyllensten, Ulf; Gornik, Olga; Wilson, James F.; Hastie, Nicholas D.; Campbell, Harry; McCarthy, Mark I.; Rudd, Pauline M.; Owen, Katharine R.; Lauc, Gordan; Wright, Alan F. 2013. Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes. 62: 1329-1337. doi: 10.2337/db12-0880
  • Tjora, Erling; Wathle, Gaute K; Engjom, Trond; Erchinger, Friedemann; Molven, Anders; Aksnes, Lage; Haldorsen, Ingfrid S.; Dimcevski, Georg Gjorgji; Njølstad, Pål Rasmus; Ræder, Helge. 2013. Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. Pancreas. 42: 1078-1084. doi: 10.1097/MPA.0b013e3182920e9c
  • Tjora, Erling; Wathle, Gaute K; Erchinger, Friedemann; Engjom, Trond; Molven, Anders; Aksnes, Lage; Haldorsen, Ingfrid S.; Dimcevski, Georg Gjorgji; Ræder, Helge; Njølstad, Pål Rasmus. 2013. Exocrine pancreatic function in hepatocyte nuclear factor 1 beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. Diabetic Medicine. 30: 946-955. doi: 10.1111/dme.12190
  • Wathle, Gaute K; Tjora, Erling; Njølstad, Pål Rasmus; Haldorsen, Ingfrid S. 2013. Assessment of exocrine pancreatic funtion by secretin-stimulated MRCP and DWI in healthy controls and in patients with monogenic diabetes. Acta Radiologica. 54: 13-13.
  • de Beaufort, Carine E.; Lange, Karin; Swift, Peter GF; Aman, Jan; Cameron, Fergus; Castaño, Luis; Dorchy, Harry; Fisher, Lynda K.; Hoey, Hilary; Kaprio, Eero A; Kocova, Mirjana; Neu, Andreas; Njølstad, Pål Rasmus; Phillip, Moshe; Schoenle, Eugen J; Robert, Jean J.; Urukami, Tatsuhiko; Vanelli, Maurizio; Danne, Thomas; Barrett, Tim; Chiarelli, Franco; Aanstoot, Henk-Jan; Mortensen, Henrik B. 2013. Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009. Pediatric Diabetes. 14: 422-428. doi: 10.1111/j.1399-5448.2012.00922.x
  • Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus; Stormyr, Alice; Kvien, Tore Kristian; Joner, Geir; Njølstad, Pål Rasmus; Førre, Øystein Thorleiv; Flatø, Berit; Alfredsson, Lars; Padyukov, Leonid; Undlien, Dag Erik; Lie, Benedicte Alexandra. 2012. CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 13: 431-436. doi: 10.1038/gene.2012.11
  • Gonc, E. Nazli; Ozturk, Burcu Bulum; Haldorsen, Ingfrid S.; Molnes, Janne; Immervoll, Heike; Ræder, Helge; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2012. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes. 13: e1-e5. doi: 10.1111/j.1399-5448.2011.00773.x
  • Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette; Molven, Anders; Njølstad, Pål Rasmus. 2012. The role of pancreatic imaging in monogenic diabetes mellitus. Nature Reviews Endocrinology. 8: 148-159. doi: 10.1038/nrendo.2011.197
  • 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
  • Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg; Molnes, Janne; Molven, Anders; Matschinsky, Franz M.; Søvik, Oddmund; Kulkarni, Rohit N; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise. 2012. GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1822: 1705-1715. doi: 10.1016/j.bbadis.2012.07.005
  • Njølstad, Pål Rasmus; Molven, Anders. 2012. To test, or not to test: time for a MODY calculator? Diabetologia. 55: 1231-1234. doi: 10.1007/s00125-012-2514-4
  • Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2012. Skreddersydd medisin eller narsissomikk? Tidsskrift for Den norske legeforening. 132: 1844-1845. Published 2012-09-04. doi: 10.4045/tidsskr.12.0582
  • Søvik, Oddmund; Aagenæs, Øystein; Eide, Stig Åge; Mackay, Deborah J.G.; Temple, I. Karen; Molven, Anders; Njølstad, Pål Rasmus. 2012. Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes. 13: 155-162. doi: 10.1111/j.1399-5448.2011.00776.x
  • Haldorsen, Ingfrid S.; Njølstad, Pål Rasmus. 2011. Bildediagnostikk av pankreas ved monogen diabetes. Diabetesforum. 4. 20-22.
  • Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette; Molven, Anders; Njølstad, Pål Rasmus. 2011. The role of pancreatic imaging in monogenic diabetes. Nature Reviews Endocrinology. doi: 10.1038/nrendo.2011.197
  • 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
  • Molnes, Janne; Teigen, Knut; Aukrust, Ingvild; Bjørkhaug, Lise; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus. 2011. Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 278: 2372-2386. doi: 10.1111/j.1742-4658.2011.08160.x
  • Molven, Anders; Njølstad, Pål Rasmus. 2011. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Review of Molecular Diagnostics. 11: 313-320. doi: 10.1586/ERM.10.123
  • Shahawy, Sarrah; Chan, Nathaniel; Ellard, Sian; Young, Elizabeth; Shahawy, Hassaan; Mace, John; Peverini, Ricardo; Chinnock, Richard; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Hatout, Eba. 2011. A pathway to insulin independence in newborns and infants with diabetes. Journal of Perinatology. 31: 567-570. doi: 10.1038/jp.2011.4
  • Thanabalasingham, Gaya; Shah, Nabi; Vaxillaire, Martine; Hansen, Torben; Tuomi, Tiinamaija; Gašperíková, Daniela; Szopa, Magdalena; Tjora, Erling; James, Tim J.; Loiseleur, F.; Kokko, P; Andersson, E.; Gaget, Stefan; Isomaa, Bo; Nowak, Natalia; Ræder, Helge; Stanik, Juraj; Njølstad, Pål Rasmus; Malecki, Maciej T.; Klimes, Iwar; Groop, Leif; Pedersen, O.; Froguel, Philippe; McCarthy, Mark I.; Gloyn, Anna L.; Owen, Katharine R. 2011. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia. 54: 2801-2810. doi: 10.1007/s00125-011-2261-y
  • Trewick, Anne L.; Moustafa, Julia S. El-Sayed; de Smith, Adam J.; Froguel, Philippe; Greve, Gottfried; Njølstad, Pål Rasmus; Coin, Lachlan J.M.; Blakemore, Alexandra I.F. 2011. Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. Clinical Chemistry. 57: 1188-1195. doi: 10.1373/clinchem.2010.159558
  • 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
  • Laborie, Lene Bjerke; Mackay, Deborah J.G.; Temple, I. Karen; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2010. DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. European Journal of Pediatrics. 169: 207-213. doi: 10.1007/s00431-009-1008-y
  • Molven, Anders; Njølstad, Pål Rasmus. 2010. Monogen diabetes i Norge. Diabetesforum. 23: 10-15.
  • 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.
  • Njølstad, Pål Rasmus; Molven, Anders. 2010. Genetikk i fokus. Diabetesforum. 23: 6-9.
  • Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B.; Andersen, Marie Louise Max; Sandal, Tone; de Wet, Heidi; Schwarcz, Erik; Åman, Jan; Swift, Peter G F; Kocova, Mirjana; Schönle, Eugen J; de Beaufort, Carine; Hougaard, Philip; Ashcroft, Frances M.; Molven, Anders; Knip, Mikael; Mortensen, Henrik B; Hansen, Lars; Njølstad, Pål Rasmus. 2010. Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 antibodies. BMC Endocrine Disorders. 10. doi: 10.1186/1472-6823-10-16
  • Ragvin, Anja; Moro, Enrico; Fredman, David; Navratilova, Pavla; Drivenes, Øyvind; Engström, Pär; Alonso, M. Eva; de la Calle Mustienesg, Elisa; Skarmeta, José Luis Gómez; Tavares, Maria J.; Casares, Fernando; Manzanares, Miguel; van Heyningen, Veronica; Molven, Anders; Njølstad, Pål Rasmus; Argenton, Francesco; Lenhard, Boris; Becker, Thomas S. 2010. Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proceedings of the National Academy of Sciences of the United States of America. 107: 775-780. doi: 10.1073/pnas.0911591107
  • Skinningsrud, Beate; Lie, Benedicte; Husebye, Eystein S; Kvien, Tore K; Førre, Øystein; Flatø, Berit; Stormyr, Alice; Joner, Geir; Njølstad, Pål R; Egeland, Thore; Undlien, Dag E. 2010. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Annals of the Rheumatic Diseases. 69: 1471-1474. doi: 10.1136/ard.2009.114934
  • Skrivarhaug, Torild; Stene, Lars Christian; Strøm, Hanne; Drivvoll, A. K.; Njølstad, Pål Rasmus; Joner, Geir. 2010. Increasing incidence of childhood onset type 1 diabetes in Norway. Diabetologia. 53: S142-S142. doi: 10.1007/s00125-010-1872-z
  • Swift, Peter G F; Skinner, T. Chas; de Beaufort, Carine E.; Cameron, Fergus; Åman, Jan; Aanstoot, Henk-Jan; Castaño, Luis; Chiarelli, Francesco; Daneman, Dennis; Danne, Thomas; Dorchy, Harry; Hoey, Hillary; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J.; Schoenle, Eugen J; Urakami, Tatsuhiko; Vanelli, Maurizio; Ackermann, Ralf W.; Skovlund, Søren E. 2010. Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. Pediatric Diabetes. 11: 271-278. doi: 10.1111/j.1399-5448.2009.00596.x
  • 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
  • Vesterhus, Mette; Ræder, Helge; Kurpad, Amarnath J; Kawamori, Dan; Molven, Anders; Kulkarni, Rohit N; Kahn, C Ronald; Njølstad, Pål Rasmus. 2010. Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. Pancreatology (Print). 10: 467-476. doi: 10.1159/000266284
  • 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.
  • Bjørnvold, Marit; Munthe-Kaas, Monica Cheng; Egeland, Thore; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Akselsen, Hanne Elisabeth; Gervin, Kristina; Carlsen, Karin Cecilie Lødrup; Carlsen, Kai-Håkon; Undlien, Dag Erik. 2009. A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. Genes and Immunity. 10: 181-187. doi: 10.1038/gene.2008.100
  • Hattersley, Andrew; Bruining, Jan; Shield, Julian; Njølstad, Pål Rasmus; Donaghue, Kim. 2009. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 10: 33-42. doi: 10.1111/j.1399-5448.2009.00571.x
  • Hoey, Hilary; Cameron, Fergus; Dorchy, Harry; Daneman, Denis; Mortensen, Henrik B; Kaprio, Eero A; Robert, Jean-Jaques; Danne, Thomas; Aanstoot, Henk-Jan; Phillip, Moshe; Vanelli, Maurizio; Chiarelli, Francesco; de Beaufort, Carine; Njølstad, Pål Rasmus; Castaño, Luis; Åman, Jan; Schönle, Eugen J; Swift, Peter G F; Robertson, Kenneth J.; Barrett, Timothy G; Fisher, Lynda K.; Skovlund, Soren E. 2009. Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 10: 9-14.
  • Lacbawan, F; Solomon, BD; Roessler, E; El-Jaick, K; Domene, S; Velez, JI; Zhou, N; Hadley, D; Balog, JZ; Long, R; Fryer, A; Smith, W; Omar, S; McLean, SD; Clarkson, K; Lichty, A; Clegg, NJ; Delgado, MR; Levey, E; Stashinko, E; Potocki, L; VanAllen, MI; Clayton-Smith, J; Donnai, D; Bianchi, DW; Juliusson, PB; Njølstad, Pål Rasmus; Brunner, HG; Carey, JC; Hehr, U; Musebeck, J; Wieacker, PF; Postra, A; Hennekam, RCM; van den Boogaard, MJH; van Haeringen, A; Paulussen, A; Herbergs, J; Schrander-Stumpel, CTRM; Janecke, AR; Chitayat, D; Hahn, J; McDonald-McGinn, DM; Zackai, EH; Dobyns, WB; Muenke, M. 2009. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-398. doi: 10.1136/jmg.2008.063818
  • 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
  • Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der; Steine, Solrun; Njølstad, Pål Rasmus; Houge, Gunnar; Prescott, Trine E. 2009. Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 129: 2358-2361.
  • Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif. 2009. The Genotypes and Phenotypes of Diabetes. Journal of the Pancreas. 10.
  • Sandal, Tone; Laborie, Lene Bjerke; Brusgaard, Klaus; Eide, Stig Åge; Christesen, Henrik B.T.; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2009. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical Genetics. 75: 440-448. doi: 10.1111/j.1399-0004.2009.01152.x
  • Skinningsrud, Beate; Lie, Benedicte Alexandra; Husebye, Eystein; Kvien, TK; Førre, Øystein Thorleiv; Flatø, Berit; Stormyr, Alice; Joner, Geir; Njølstad, Pål R.; Egeland, Thore; Undlien, Dag Erik. 2009. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases. Published 2009-09-01. doi: 10.1136/ard.2009.114934
  • Åman, Jan; Skinner, TC; de Beaufort, Carine E.; Aanstoot, H. J.; Swift, Peter G F; Cameron, F.; Daneman, Denis; Kaprio, Eero A; Danne, Thomas; Aanstoot, Henk-Jan; Phillip, Moshe; Chiarelli, Francesco; Dorchy, Harry; Mortensen, Henrik B; Robert, Jean-Jaques; Neu, Andreas; Hoey, Hilary; Vanelli, Maurizio; Urakami, Tatsuhiko; Njølstad, Pål Rasmus. 2009. Associations between physical activity, sedentary behavior, and glycemic control in a large cohort of adolescents with type 1 diabetes: the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 10: 234-239. doi: 10.1111/j.1399-5448.2008.00495.x
  • Bjørnvold, Marit; Undlien, DE; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Akselsen, HE; Gervin, Kristina; Rønningen, Kjersti Skjold; Stene, Lars Christian. 2008. Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 51: 589-596. doi: 10.1007/s00125-008-0932-0
  • Cameron, Fergus; Skinner, T. Chas; de Beaufort, Carine E.; Hoey, Hillary; Swift, Peter G F; Aanstoot, Henk-Jan; Åman, Jan; Martul, Pedro; Chiarelli, Francesco; Daneman, Denis; Danne, Thomas; Dorchy, Harry; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J; Schoenle, Eugen J; Urakami, Tatsuhiko; Vanelli, Maurizio; Ackermann, Ralf W.; Skovlund, Søren E. 2008. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabetic Medicine. 25: 463-468. doi: 10.1111/j.1464-5491.2008.02399.x
  • Christesen, Henrik B. Thybo; Tribble, Nicholas D.; Molven, Anders; Siddiqi, Juveria; Sandal, Tone; Brusgaard, Klaus; Ellard, Sian; Njølstad, Pål Rasmus; Alm, Jan; Jacobsen, Bendt Brock; Hussain, Khalid; Gloyn, Anna L. 2008. Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. Hormone Research. 70: 41-41.
  • Christesen, Henrik B.T.; Tribble, Nicholas D.; Molven, Anders; Siddiqui, Juveria; Sandal, Tone; Brusgaard, Klaus; Ellard, Sian; Njølstad, Pål Rasmus; Alm, Jan; Jacobsen, Bendt Brock; Hussain, Khalid; Gloyn, Anna L. 2008. Activating glucokinase (GCK) Mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. European Journal of Endocrinology. 159: 27-34. doi: 10.1530/EJE-08-0203
  • 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
  • Haldorsen, Ingfrid Salvesen; Vesterhus, Mette; Ræder, Helge; Jensen, Dag K.; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2008. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic Medicine. 25: 782-787. doi: 10.1111/j.1464-5491.2008.02460.x
  • Harries, Lorna W.; Locke, Jonathan M.; Shields, Beverley; Hanley, Neil A.; Hanley, Karen Piper; Steele, Anna; Njølstad, Pål Rasmus; Ellard, Sian; Hattersley, Andrew T. 2008. The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes. 57: 1745-1752. doi: 10.2337/db07-1742
  • 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
  • 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
  • Molnes, Janne; Bjørkhaug, Lise; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir. 2008. Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. The FEBS Journal. 275: 2467-2481. doi: 10.1111/j.1742-4658.2008.06391.x
  • Molven, A; Ringdal, M; Nordbø, AM; Raeder, H; Støy, J; Lipkind, GM; Steiner, DF; Philipson, LH; Bergmann, I; Aarskog, D; Undlien, DE; Joner, Geir; Søvik, Oddmund; Norwegian Childhood Diabetes, Study Group; Bell, GI; Njølstad, PR. 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 57: 1131-1135.
  • Molven, Anders; Ringdal, Monika; Nordbo, AM; Nordbø, Anita-Merete; Raeeder, H; Ræder, Helge; Stoy, J; Støy, Julie; Lipkind, Gregory M.; Steiner, Donald F.; Philipson, Louis H.; Bergmann, Ines; Aarskog, Dagfinn; Undlien, Dag Erik; Joner, Geir; Joner, Geir; Søvik, Oddmund; Sovik, O; Bell, Graeme I.; Njølstad, Pål Rasmus. 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 57: 1131-1135. doi: 10.2337/db07-1467
  • Njølstad, Pål Rasmus; Johansson, Stefan. 2008. EASD: genetikk of diabetes type 2. Diabetesforum. 4: 4-5.
  • Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B.; de Wet, Hayley; Schvarcz, Erik; Sandal, Tone; Åman, Jan; Swift, Peter G F; Hougaard, Philip; Ashcroft, Frances M.; Molven, Anders; Knip, Mikael; Hansen, Lars; Njølstad, Pål Rasmus; Mortensen, Henrik B. 2008. SUR mutation in type 1 diabetes: autoimmunity prevents sulfonylurea rescue of diabetes caused by SUR1 mutation. Results from the Hvidore Study Group. Diabetologia. 51: S116-S116. doi: 10.1007/s00125-008-1117-6
  • Sagen, Jørn V.; Bjørkhaug, Lise; Molnes, Janne; Ræder, Helge; Grevle, Louise; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2008. Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 9: 442-449. doi: 10.1111/j.1399-5448.2008.00399.x
  • Sandal, Tone; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. Pediatrisk Endokrinologi. 28: 37-43.
  • Skrivarhaug, Torild; Bjørnvold, Marit; Undlien, Dag Erik; Njølstad, Pål Rasmus; Joner, Geir. 2008. Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. Diabetologia. 51: S154-S154. doi: 10.1007/s00125-008-1117-6
  • Søvik, Oddmund; Juliusson, Petur; Hansen, Eirik V.; Njølstad, Pål Rasmus. 2008. Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. Pediatrisk Endokrinologi. 22: 56-63.
  • Søvik, Oddmund; Njølstad, Pål Rasmus; Jellum, Egil; Molven, Anders. 2008. Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. Journal of Inherited Metabolic Disease. doi: 10.1007/s10545-008-0866-1
  • 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; Haldorsen, Ingfrid Salvesen; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2008. Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. Journal of Clinical Endocrinology and Metabolism. 93: 3505-3509. doi: 10.1210/jc.2008-0340
  • Vesterhus, Mette; Ræder, Helge; Aurlien, Harald; Gjesdal, Clara Gram; Bredrup, Cecilie; Holm, Pål Ivar; Molven, Anders; Bindoff, Laurence; Berstad, Arnold; Njølstad, Pål Rasmus. 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 31: 1738-1740. doi: 10.2337/dc07-2217
  • 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
  • de Beaufort, Carine; Skinner, Chas T.; Swift, Peter G F; Aanstoot, Henk-Jan; Aman, Jan; Daneman, Dennis; Njølstad, Pål Rasmus; Cameron, Fergus; Martul, Pedro; Mortensen, Henrik B; Hoey, Hilary; Kocova, Mirjana; Dorchy, Harry; Kaprio, Eero A; Phillip, Moshe; Kaufmann, Francine; Schoenle, Eugen J; Vanelli, Maurizio; Urakami, Tatsuhiko; Chiarelli, Francesco; Robertson, Kenneth J; Danne, Thomas; Skovlund, Søren E.; Ackerman, Ralph. 2008. Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. Hormone Research. 70: 202-203.
  • Aamodt, Geir; Stene, Lars Christian; Njølstad, Pål; Søvik, Oddmund; Joner, Geir. 2007. Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged < 15 years in Norway 1973-1982 and 1989-2003. Diabetes Care. 30: 884-889. doi: 10.2337/dc06-1568
  • Bjørkhaug, Lise; Molnes, Janne; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir. 2007. Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 282: 22757-22764. doi: 10.1074/jbc.M700517200
  • 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
  • Laborie, Lene Bjerke; Søvik, Oddmund; Njølstad, Pål Rasmus. 2007. Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. Pediatrisk Endokrinologi. 21: 23-28.
  • Ræder, Helge; Haldorsen, Ingfrid Salvesen; Ersland, Lars; Grüner, Renate; Taxt, Torfinn; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. Diabetes. 56: 444-449. doi: 10.2337/db06-0859
  • Søvik, Oddmund; Schubbert, Suzanne; Houge, Gunnar; Steine, Solrun; Norgård, Gunnar; Engelsen, Bernt; Njølstad, Pål Rasmus; Shannon, Kevin; Molven, Anders. 2007. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. Journal of Medical Genetics. 44. 6 pages. doi: 10.1136/jmg.2007.049361
  • Søvik, Oddmund; Tansek, Mojca Zerjav; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2007. Management of neonatal and infancy-onset diabetes mellitus. Endocrine Development. 11: 94-105.
  • 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
  • de Beaufort, Carine E.; Swift, Peter G F; Skinner, Chas T.; Aanstoot, Henk-Jan; Åman, Jan; Cameron, Fergus; Martul, Pedro; Chiarelli, Francesco; Daneman, Denis; Danne, Thomas; Dorchy, Harry; Hoey, Hilary; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J; Schoenle, Eugen J; Urakami, Tatsuhiko; Vanelli, Maurizio. 2007. Continuing stability of center differences in pediatric diabetes care: Do advances in diabetes treatment improve outcome? The Hvidoere study group on childhood diabetes. Diabetes Care. 30: 2245-2250. doi: 10.2337/dc07-0475
  • Bjørnvold, M; Amundsen, SS; Stene, Lars Christian; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Ek, J; Ascher, H; Gudjonsdottir, AH; Lie, BA; Skinningsrud, B; Akselsen, HE; Rønningen, Kjersti Skjold; Sollid, LM; Undlien, DE. 2006. FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. 27: 140-144. doi: 10.1016/j.jaut.2006.06.007
  • Hathout, Eba; Mace, John; Bell, Graeme I.; Njølstad, Pål Rasmus. 2006. Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 29: 1458-1458.
  • Hattersley, Andrew T.; Bruining, Jan; Shield, Julian; Njølstad, Pål Rasmus; Donaghue, Kim. 2006. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes. 7: 352-360. doi: 10.1111/j.1399-5448.2006.00217.x
  • Mackay, Deborah J.G.; Boonen, Susanne Eriksen; Clayton-Smith, Jill; Goodship, Judith; Hahnemann, Johanne M.D.; Kant, Sarina G.; Njølstad, Pål Rasmus; Robin, Nathaniel H.; Robinson, David O.; Siebert, Reiner; Shield, Julian P.H.; White, Helen E.; Temple, Isabel Karen. 2006. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 120: 262-269. doi: 10.1007/s00439-006-0205-2
  • Pearson, Ewan R.; Flechtner, Isabelle; Njølstad, Pål Rasmus; Malecki, Maciej T.; Flanagan, Sarah E.; Larkin, Brian; Ashcroft, Frances M.; Klimes, Iwar; Codner, Ethel; Iotova, Violeta; Slingerland, Annabelle S.; Shield, Julian; Robert, Jean-Jaques; Holst, Jens J.; Clark, Penny M.; Ellard, Sian; Søvik, Oddmund; Polak, Michel; Hattersley, Andrew T. 2006. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. New England Journal of Medicine. 355: 467-477.
  • Proks, Peter; Girard, Christophe; Bævre, Halvor; Njølstad, Pål Rasmus; Ashcroft, Frances M. 2006. Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes and response to sulfonylurea therapy. Diabetes. 55: 1731-1737. doi: 10.2337/db05-1420
  • 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
  • Ræder, Helge; Nermoen, Ingrid; Johansson, Stefan; Søvik, Oddmund; Molven, Anders; Sagen, Jørn V.; Aksnes, Lage; Haldorsen, Ingfrid S.; Bjørkhaug, Lise; Holm, Pål Ivar; Eide, Stig Åge; Grevle, Louise; Mas, Eric; Sbarra, Véronique; Lombardo, Dominique; Njølstad, Pål Rasmus. 2006. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 38: 54-62.
  • Ræder, Helge; Njølstad, Pål Rasmus. 2006. Ny type diabetes. Diabetesforum. 1. 20-21.
  • Sagen, JV; Odili, S; Bjørkhaug, L.; Zelent, D; Buettger, C; Kwagh, J; Stanley, C; Dahl-Jørgensen, Knut; de Beaufort, CE; Bell, GI; Han, Y; Grimsby, J; Taub, R; Molven, A; Søvik, Oddmund; Njølstad, PR; Matschinsky, FM. 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 55: 1713-1722.
  • Sagen, Jørn; Odili, Stella; Bjørkhaug, Lise; Zelent, Dorothy; Buettger, Carol; Kwagh, Jae; Stanley, Charles; Dahl-Jørgensen, Knut; de Beaufort, Carine; Bell, Graeme I.; Han, Yi; Grimsby, Joseph; Taub, Rebecca; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus; Matschinsky, Franz M. 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 55: 1713-1722. doi: 10.2337/db05-1513
  • Bjørkhaug, L.; Johansson, Stefan; Ræder, Helge; Thorsby, Per; Undlien, Dag Erik; Søvik, Oddmund; Molven, Anders; Sagen, J; Njølstad, Pål Rasmus. 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 125: 2968-72.
  • 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.; Bratland, Andre; Njølstad, Pål Rasmus; Molven, Anders. 2005. Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. DNA and Cell Biology. 24: 661-669.
  • 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.
  • Sagen, Jørn V.; Baumann, Maren E.; Salvesen, Helga; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2005. Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. Diabetic Medicine. 22: 1012-1015.
  • Sagen, Jørn V.; Pearson, Ewan R.; Johansen, Anders; Spyer, Ghislaine; Søvik, Oddmund; Pedersen, Oluf; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Hansen, Torben. 2005. Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. Diabetic Medicine. 22: 406-409.
  • Salvesen, Helga; Njølstad, Pål Rasmus. 2005. Barn ingen hindring. Bladet forskning. 03. 26-26.
  • Shehadeh, Naim; Bakri, D.; Gershoni-Baruch, R; Njølstad, Pål Rasmus. 2005. Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 22: 994-998.
  • Tammaro, P; Girard, C; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, F. 2005. Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. Biophysical Journal. 88: 285A-285A.
  • Tammaro, Paolo; Girard, Christophe; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, Frances M. 2005. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal. 24: 2318-2330.
  • Gloyn, AL; Pearson, ER; Antcliff, JF; Proks, P; Bruining, GJ; Slingerland, AS; Howard, N; Srinivasan, S; Silva, JMCL; Molnes, Janne; Edghill, EL; Frayling, TM; Temple, IK; Mackay, D; Shield, JPH; Sumnik, Z; van Rhijn, A; Wales, JKH; Clark, P; Gorman, S; Aisenberg, J; Ellard, S; Njølstad, Pål Rasmus; Ashcroft, FM; Hattersley, AT. 2004. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine. 350: 1838-1849.
  • Molven, Anders; Matre, GE; Duran, M; Wanders, RJ; Rishaug, U; Njølstad, Pål Rasmus; Jellum, E; Søvik, Oddmund. 2004. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 53: 221-227.
  • Porzio, O; Massa, O; Cunsolo, V; Hansen, T; Hattersley, AT; Njølstad, Pål Rasmus; Terrinoni, A; Melino, G; Federici, M; Marchetti, P; Colombo, C; Federici, G; Barbetti, F. 2004. Mutations of transglutaminase 2 and early onset Type 2 diabetes. Diabetologia. 47: A137-A138.
  • Sagen, Jørn V.; Ræder, Helge; Hathout, Eba; Gudmundsson, K; Bævre, H; Abuelo, D; Phornphutkul, C; Molnes, Janne; Bell, GI; Gloyn, AL; Hattersley, AT; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2004. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes. 53: 2713-2718.
  • Stene, Lars Christian; Joner, G; Njølstad, Pål Rasmus. 2004. Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. Clinical and Experimental Allergy. 34: 201-206.
  • Bjørkhaug, L; Sagen, Jørn V.; Thorsby, P; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2003. Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 88: 920-931.
  • Gundersen, Lise Bj.; Sagen, Jørn V.; Thorsby, P; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2003. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 88: 920-931.
  • Njølstad, PR; Molven, Anders. 2003. Forskere diskuterte arv og diabetes. Diabetes for helsepersonell. 4. 12-14.
  • Njølstad, Pål Rasmus. 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. Diabetes. 52: 2854-2860.
  • Njølstad, Pål Rasmus. 2003. Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. Journal of diabetes and its complications. 17: 369-373.
  • Njølstad, Pål Rasmus; Bjørkhaug, L. 2003. Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 16: 64-69.
  • Njølstad, Pål Rasmus; Bjørkhaug, L. 2003. Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 16: 64-69.
  • Njølstad, Pål Rasmus; Molven, Anders. 2003. Forskere diskuterte arv og diabetes. Diabetes for helsepersonell. 4: 12-14.
  • Njølstad, Pål Rasmus; Molven, Anders. 2003. Forskere diskuterte diabetes. Diabetes for helsepersonell. 4: 12-14.
  • Njølstad, Pål Rasmus; Sagen, Jørn. 2003. Klinisk molekylærmedisin(4): koblingsanalyser. Pediatrisk Endokrinologi. 16: 34-38.
  • Njølstad, Pål Rasmus; Sagen, Jørn V. 2003. Klinisk molekylærmedisin (4): Koblingsanalyser. Pediatrisk Endokrinologi. 16: 34-38.
  • Njølstad, Pål Rasmus; Sagen, Jørn V.; Bjørkhaug, Lise; Odili, Stella; Shehadeh, Naim; Bakry, Doua; Sarici, U; Alpay, Faruk; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, Franz M. 2003. Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes. 52: 2854-2860.
  • Njølstad, Pål Rasmus; Sagen, Jørn; Bjørkhaug, Lise; Odili, Stella; Shehadeh, Naim; Bakry, Doua; Sarici, S. Umit; Alpay, Faruk; Molnes, Janne; Molven, Anders; Søvik, Oddmund; Matschinsky, Franz M. 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. Diabetes. 52: 2854-2860.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 2003. Neonatal diabetes - permanent eller transient? PAIDOS.
Reports and theses
  • Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif. 2009. Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. Journal of the Pancreas. 10: 4. Journal of the Pancreas. -466471 pages.
Book sections
  • Molven, Anders; Helgeland, Geir; Sandal, Tone; Njølstad, Pål Rasmus. 2012. The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency. Chapt 13, pages 137-145. In:
    • Stanley, C.A.; De Léon, D.D. 2012. Frontiers in Diabetes, Vol 21. Monogenic Hyperinsulinemic Hypoglycemia Disorders. S. Karger. 192 pages. ISBN: 978-3-8055-9943-6.
  • Søvik, Oddmund; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2008. MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations. Kapittel, pages 1096-1102. In:
    • Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony. 2008. Inborn Errors of Development. Oxford University Press. 1664 pages. ISBN: 9780195306910.
  • Njølstad, Pål Rasmus; Molven, Anders; Søvik, Oddmund. 2005. Diagnosis and mangement of MODY in a pediatric setting. Chapter 5, pages 84-93. In:
    • Chiarelli, Francesco; Dahl-Jørgensen, Knut; Kiess, Wieland. 2005. Diabetes in Childhood and Adolescence. S. Karger. 400 pages. ISBN: 3-8055-7766-4.
  • Njølstad, Pål Rasmus. 2004. Glucokinase and the regulation of blood sugar: A mathematical model predicts the threshold for glucose stimulated insulin release for GCK gene mutations that cause hyper- and hypoglycemia. 16, pages 92-109. In:
    • Matschinsky, FM; Magnusson, M. 2004. Glucokinase and Glycemic Disease: From basics to novel therapeutics. 400 pages.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 2004. Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. 16, pages 65-74. In:
    • Matschinsky, FM; Magnusson, M. 2004. Glucokinase and Glycemic Disease: From basics to novel therapeutics. 400 pages.

More information in national current research information system (CRIStin)