Pål Rasmus Njølstad, MD PhD, Njølstad´s is interested in childhood and monogenic diabetes having described new diabetes syndromes including diabetes and exocrine dysfunction due to mutations in CEL, and found that neonatal diabetes can be treated with sulfonylurea tablets instead of insulin. Njølstad is Professor and Head of Department of Clinical Medicine, University of Bergen, Consultant Physician at the Department of Pediatrics, Haukeland University Hospital, and Leader of Center for Diabetes Research coordinating a proposal for a Norwegian center of excellence, Center for Diabetes Mechanisms. He has had research stays at the University of Chicago, Harvard Medical School, Broad Institute of Harvard and MIT, and Massachusetts General Hospital. He has achieved competitive research funding, eg. from the European Research Council (ERC AdG) and the Novo Nordisk Foundation, has earned several international prizes, and is member of the Norwegian Society of Science and Letters. 

Academic article

• Anny Gravdal Svanbring; Steven J. Wilhelm; Ivan Abbedissen et al. (2025). The MODY-Causing Mutation of the Human Carboxyl Ester Lipase Gene (CEL) Triggers Chronic Pancreatitis But Not Diabetes in Mice. (external link)
• Pernille Svalastoga; Alba Kaci; Janne Molnes et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (external link)
• Ksenia Lavrichenko; Øyvind Helgeland; Pål Rasmus Njølstad et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (external link)
• JV Sagen; S Odili; L. Bjørkhaug et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (external link)
• Hill F. Ip; Camiel M. van der Laan; Eva M. L. Krapohl et al. (2021). Genetic association study of childhood aggression across raters, instruments, and age. (external link)
• Anders Molven; GE Matre; M Duran et al. (2004). Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. (external link)
• AL Gloyn; ER Pearson; JF Antcliff et al. (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (external link)
• Triin Laisk; Ana Luiza G. Soares; Teresa Ferreira et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (external link)
• Adrian K.K. Teo; Rebecca Windmueller; Bente Berg Johansson et al. (2013). Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. (external link)
• Pål Rasmus Njølstad (2002). Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. (external link)
• Helge Ræder; Fiona E. McAllister; Erling Tjora et al. (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. (external link)
• Zhen Qiao; Jie Zheng; Øyvind Helgeland et al. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. (external link)
• Lise Bjørkhaug; Pål Rasmus Njølstad; Oddmund Søvik et al. (2001). N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. (external link)
• Gaute K Wathle; Erling Tjora; Lars Ersland et al. (2014). Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. (external link)
• P.R. Njølstad; T Lindner; Y Horikawa et al. (1999). A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. (external link)
• Sondre V. Meling; Erling Tjora; Heike Eichele et al. (2023). The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy. (external link)
• Lene Bjerke Laborie; Deborah J.G. Mackay; I. Karen Temple et al. (2010). DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. (external link)
• Anne L. Trewick; Julia S. El-Sayed Moustafa; Adam J. de Smith et al. (2011). Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. (external link)
• Robin N. Beaumont; Christopher Flatley; Marc Vaudel et al. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. (external link)
• Anders Molven; Oddmund Søvik; Charlotte von der Lippe et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (external link)
• Janne Molnes; Lise Bjørkhaug; Oddmund Søvik et al. (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. (external link)
• Ashley Budu-Aggrey; Anna Kilanowski; Maria K. Sobczyk et al. (2023). European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. (external link)
• Timothy C Skinner; Karin S Lange; Hilary Hoey et al. (2018). Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. (external link)
• Khadija el Jellas; Bente Berg Johansson; Karianne Fjeld et al. (2018). The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants. (external link)
• Helga Salvesen; Pål Rasmus Njølstad; Lars A. Akslen et al. (1992). Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. (external link)
• Dagfinn Aarskog; Pål Rasmus Njølstad; Robert Bjerknes (2000). Klinisk dysmorfologi: En oversikt. (external link)
• Tone Sandal; Oddmund Søvik; Pål Rasmus Njølstad et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. (external link)
• Ghadir Elias-Assad; Raunak Saab; Janne Molnes et al. (2021). Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. (external link)
• Erling Tjora; Gaute K Wathle; Trond Engjom et al. (2013). Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. (external link)
• E Haan; H Sallis; Eivind Ystrøm et al. (2021). Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring. (external link)
• Manuel Carrasco Fernandez; Chencheng Wang; Anne Mette Søviknes et al. (2022). Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. (external link)
• Martin Arstad Isungset; Dalton C Conley; Henrik Daae Zachrisson et al. (2022). Social and genetic associations with educational performance in a Scandinavian welfare state. (external link)
• Kishan Kumar Chudasama; Jonathan Winnay; Stefan Johansson et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (external link)
• P. Due; Carine de Beaufort; MT Damsgaard et al. (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. (external link)
• Hilary Hoey; Fergus Cameron; Harry Dorchy et al. (2009). Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. (external link)
• Bente Berg Johansson; Henrik Underthun Irgens; Janne Molnes et al. (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. (external link)
• Elin Strand; Eva Ringdal Pedersen; Gard Frodahl Tveitevåg Svingen et al. (2017). Serum acylcarnitines and risk of cardiovascular death and acute myocardial infarction in patients with stable angina pectoris. (external link)
• Anne Cathrine Thuesen; Fredrik Filip Stæger; Alba Kaci et al. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. (external link)
• M Bjørnvold; SS Amundsen; Lars Christian Stene et al. (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. (external link)
• Pål Rasmus Njølstad; Jørn Sagen (2003). Klinisk molekylærmedisin(4): koblingsanalyser. (external link)
• Pål Rasmus Njølstad; Jørn Sagen; Lise Bjørkhaug et al. (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. (external link)
• Oddmund Søvik; Øystein Aagenæs; Stig Åge Eide et al. (2012). Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. (external link)
• Pål Rasmus Njølstad; B. N. Cockburn; G. I. Bell et al. (1998). A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young (MODY). (external link)
• Sarrah Shahawy; Nathaniel Chan; Sian Ellard et al. (2011). A pathway to insulin independence in newborns and infants with diabetes. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik; Antonio Cuesta-Munoz et al. (2001). Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik (2001). Når betacellens glukosesensor svikter. (external link)
• Marie Holm Solheim; Allen C. Clermont; Jonathon N. Winnay et al. (2017). Iris malformation and anterior segment dysgenesis in mice and humans with a mutation in PI 3-Kinase. (external link)
• Andrew T. Hattersley; Siri A.W. Greeley; Michel Polak et al. (2018). ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. (external link)
• Oddmund Søvik; Pål Rasmus Njølstad; Hallvard Reigstad et al. (2001). Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris?. (external link)
• Ng’weina Francis Magitta; AS Bøe; S Johansson et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Jens Kristoffer Hertel; Stefan Johansson; Helge Ræder et al. (2011). Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (external link)
• Heiko Bratke; Hanna D. Margeirsdottir; Jörg Assmus et al. (2021). Does Current Diabetes Technology Improve Metabolic Control? A Cross-Sectional Study on the Use of Insulin Pumps and Continuous Glucose Monitoring Devices in a Nationwide Pediatric Population. (external link)
• Jørn V. Sagen; Lise Bjørkhaug; Janne Molnes et al. (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. (external link)
• P.R. Njølstad; Ola Skjeldal; E. Agsteribbe et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (external link)
• Jørn V. Sagen; Pål Rasmus Njølstad; Oddmund Søvik (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. (external link)
• Luis Francisco Hernández Sánchez; Bram Burger; Carlos Horro Marcos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (external link)
• Jørn Sagen; Stella Odili; Lise Bjørkhaug et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (external link)
• Helge Raeder; Helge Ræder; Lise Bjorkhaug et al. (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. (external link)
• Lise Bj. Gundersen; Jørn V. Sagen; P Thorsby et al. (2003). Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. (external link)
• Jørn V. Sagen; Leif Bostad; Pål Rasmus Njølstad et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (external link)
• Peter G F Swift; T. Chas Skinner; Carine E. de Beaufort et al. (2010). Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. (external link)
• A Molven; M Ringdal; AM Nordbø et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (external link)
• Henrik Underthun Irgens; Janne Molnes; Bente Berg Johansson et al. (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (external link)
• Oddmund Søvik; Mojca Zerjav Tansek; Jørn V. Sagen et al. (2007). Management of neonatal and infancy-onset diabetes mellitus. (external link)
• Janniche Torsvik; Bente Berg Johansson; Monica Dalva et al. (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Helge Ræder; Pål Rasmus Njølstad (2006). Ny type diabetes. (external link)
• L. Bjørkhaug; Stefan Johansson; Helge Ræder et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (external link)
• Helge Ræder; Ingfrid Salvesen Haldorsen; Lars Ersland et al. (2007). Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. (external link)
• Serge Eifes; Kishan Kumar Chudasama; Janne Molnes et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (external link)
• Abrar Ahmad; Lee-Ling Lim; Mario Luca Morieri et al. (2024). Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis. (external link)
• Zhila Semnani-Azad; Romy Gaillard; Alice E. Hughes et al. (2024). Precision stratification of prognostic risk factors associated with outcomes in gestational diabetes mellitus: a systematic review. (external link)
• Ellen Verhoef; Andrea G. Allegrini; Philip R. Jansen et al. (2024). Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits. (external link)
• Melisa J Baptista; Una L Fairbrother; Catherine M Howard et al. (2000). Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?. (external link)
• Karianne Fjeld; Frank Ulrich Weiss; Denise Lasher et al. (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. (external link)
• Lise Bjørkhaug; Y Horikawa; Hong Ye et al. (2000). MODY associated with two novel hepatocyte nuclear factor 1 alpha loss of function mutations. (external link)
• Klara Rozenkova; Jana Malikova; Azizun Nessa et al. (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. (external link)
• Pernille Svalastoga; Åsta Nordsveen Sulen; Jarle Røneid Fehn et al. (2020). Intellectual disability in KATP channel neonatal diabetes. (external link)
• Carine E. de Beaufort; Karin Lange; Peter GF Swift et al. (2013). Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009. (external link)
• PR Njølstad; H Reigstad; J Westby et al. (1998). Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. (external link)
• Jan-Inge Bjune; Samantha Laber; Laurence Dyer et al. (2025). IRX3 controls a SUMOylation-dependent differentiation switch in adipocyte precursor cells. (external link)
• German Tapia; Georgina Mortimer; Jody Ye et al. (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. (external link)
• Laurence J. Howe; Michel G. Nivard; Tim T. Morris et al. (2022). Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. (external link)
• German Tapia; Ketil Størdal; Karl Staffan Mårild et al. (2018). Antibiotics, acetaminophen and infections during prenatal and early life in relation to type 1 diabetes. (external link)
• Pål Rasmus Njølstad; Stefan Johansson (2008). EASD: genetikk of diabetes type 2. (external link)
• Amit K. Srivastava; Julius Juodakis; Pol Sole-Navais et al. (2025). Haplotype-based analysis distinguishes maternal-fetal genetic contribution to pregnancy-related outcomes. (external link)
• Kristina Strand; Natalie Stiglund; Martha Eimstad Haugstøyl et al. (2022). Subtype-specific surface proteins on adipose tissue macrophages and their association to obesity-induced insulin resistance. (external link)
• Kelly Velasco Pinto; Johanna Lüdeke St-Louis; Henrikke Nilsen Hovland et al. (2020). Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. (external link)
• Jason Flannick; Christian Fuchsberger; Anubha Mahajan et al. (2017). Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. (external link)
• Pol Solé-Navais; Christopher Flatley; Valgerdur Steinthorsdottir et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (external link)
• Jakub Vasicek; Dafni Skiadopoulou; Ksenia Kuznetsova et al. (2023). Finding haplotypic signatures in proteins. (external link)
• Hana Lango Allen; Stefan Johansson; Sian Ellard et al. (2010). Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. (external link)
• Ingfrid S. Haldorsen; Helge Ræder; Mette Vesterhus et al. (2011). The role of pancreatic imaging in monogenic diabetes. (external link)
• Stefan Johansson; Helge Ræder; Stig Åge Eide et al. (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. (external link)
• Gard Frodahl Tveitevåg Svingen; Hall Schartum-Hansen; Eva Ringdal Pedersen et al. (2016). Prospective associations of systemic and urinary choline metabolites with incident type 2 diabetes. (external link)
• Robert Bjerknes; O. B. Kittang; Pål Rasmus Njølstad et al. (1998). Utredning ved mistanke om Cushing syndrom. (external link)
• Kandasamy Balamurugan; Lise Bjørkhaug; Swapnil Mahajan et al. (2016). Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. (external link)
• Chloe Austerberry; Tetyana Zayats; Angelica Ronald et al. (2025). Evocative effects of children's education-associated genetics on maternal parenting: results from the Norwegian mother, father and child cohort study. (external link)
• Fergus Cameron; T. Chas Skinner; Carine E. de Beaufort et al. (2008). Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?. (external link)
• Robyn E Wootton; Rebecca B. Lawn; Maria C. Magnus et al. (2023). Associations between health behaviours, fertility and reproductive outcomes: triangulation of evidence in the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Alvaro Hernaez Camba; Karoline Hansen Skåra; Christian Magnus Page et al. (2024). Parental genetically predicted liability for coronary heart disease and risk of adverse pregnancy outcomes: a cohort study. (external link)
• Jonathan P. Bradfield; Suzanne Vogelezang; Janine F. Felix et al. (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. (external link)
• German Tapia; Karl Staffan Mårild; Sandra Rinne Dahl et al. (2019). Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. (external link)
• Jørn V. Sagen; Ewan R. Pearson; Anders Johansen et al. (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. (external link)
• David Westergaard; Valgerdur Steinthorsdottir; Lilja Stefansdottir et al. (2024). Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage. (external link)
• Annika Jaitner; Marc Vaudel; Krasimira Tsaneva-Atanasova et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (external link)
• Marie Holm Solheim; Jonathon N. Winnay; Thiago M. Batista et al. (2018). Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. (external link)
• Lorna W. Harries; Jonathan M. Locke; Beverley Shields et al. (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. (external link)
• Pol Solé-Navais; Jonas Bacelis; Øyvind Helgeland et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (external link)
• Paolo Tammaro; Christophe Girard; Janne Molnes et al. (2005). Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. (external link)
• Øyvind Helgeland; Marc Vaudel; Petur Benedikt Juliusson et al. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. (external link)
• TO Kilpelainen; L Qi; S. Brage et al. (2011). Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. (external link)
• Khadija el Jellas; Petra Dušátková; Ingfrid S. Haldorsen et al. (2022). Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. (external link)
• Alba Kaci; Marie Holm Solheim; Trine Silgjerd et al. (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. (external link)
• Peter Proks; Christophe Girard; Halvor Bævre et al. (2006). Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes and response to sulfonylurea therapy. (external link)
• P.R. Njølstad; O. Skjeldal; E. Agsteribbe et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (external link)
• Eman M. Sherif; Abeer A. Abdelmaksoud; Nancy S. Elbarbary et al. (2013). An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. (external link)
• Karen Christina Walker; Ina O. Specht; Vibeke Hjortdal et al. (2025). Circulating 25-Hydroxyvitamin D Levels During Pregnancy and Risk of Congenital Heart Diseases: Multivariable and Mendelian Randomization Analyses Using 3 Birth Cohorts. (external link)
• Aishwarya Pavithram; Haichen Zhang; Kristin A. Maloney et al. (2024). In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY. (external link)
• Pål Rasmus Njølstad (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. (external link)
• Pål Rasmus Njølstad (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (external link)
• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Jonathon N. Winnay; Marie Holm Solheim; Ercument Dirice et al. (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (external link)
• Lene Bjerke Laborie; Oddmund Søvik; Pål Rasmus Njølstad (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. (external link)
• Deborah J.G. Mackay; Susanne Eriksen Boonen; Jill Clayton-Smith et al. (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (external link)
• Tom H Lindner; Pål Rasmus Njølstad; Y Horikawa et al. (1999). A novel syndrome of diabetes mellitus, renal dysfunction and genital malforation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. (external link)
• Bente Berg Johansson; Karianne Fjeld; Marie Holm Solheim et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (external link)
• Jens Kristoffer Hertel; Stefan Johansson; H Ræder et al. (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). (external link)
• Nicolai Andre Lund-Blix; German Tapia; Karl Staffan Mårild et al. (2020). Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study. (external link)
• Andrew Hattersley; Jan Bruining; Julian Shield et al. (2009). The diagnosis and management of monogenic diabetes in children and adolescents. (external link)
• Alvaro Hernaez Camba; Yunsung Lee; Christian Magnus Page et al. (2023). Impaired glucose tolerance and cardiovascular risk factors in relation to infertility: A Mendelian randomization analysis in the Norwegian Mother, Father, and Child Cohort Study. (external link)
• Lise Bjørkhaug; Oddmund Søvik; Graeme I. Bell et al. (2000). A simple test for the hot spot mutation P291fsinsC in MODY3. (external link)
• Magali Avila; David A. Dyment; Jørn V. Sagen et al. (2016). Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. (external link)
• Alvaro Hernaez Camba; Robyn E Wootton; Christian Magnus Page et al. (2022). Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. (external link)
• Nicolai Andre Lund-Blix; Anne A. Bjerregaard; German Tapia et al. (2024). No association between long-chain n-3 fatty acid intake during pregnancy and risk of type 1 diabetes in offspring in two large Scandinavian pregnancy cohorts. (external link)
• Henrik Underthun Irgens; Karianne Fjeld; Bente Berg Johansson et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (external link)
• Laura Kind; Janne Molnes; Erling Tjora et al. (2024). Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes. (external link)
• Lise Bj. Gundersen; Andre Bratland; Pål Rasmus Njølstad et al. (2005). Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. (external link)
• Ingunn Bratland Romuld; Tine-Lise Kalleklev; Janne Molnes et al. (2021). Impact of overweight on glucose homeostasis in MODY2 and MODY3. (external link)
• Jason Flannick; Nicola L. Beer; Alexander G. Bick et al. (2013). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. (external link)
• Jan-Inge Bjune; Laurence Dyer; Gro Vatne Røsland et al. (2019). The homeobox factor Irx3 maintains adipogenic identity. (external link)
• Anders Molven; Pål Rasmus Njølstad; Anders Fjose (1991). Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. (external link)
• Ragna Bugge Askeland; Laurie J. Hannigan; Helga Ask et al. (2021). Early manifestations of genetic risk for neurodevelopmental disorders. (external link)
• Karianne Fjeld; Sebastian Beer; Marianne Johnstone et al. (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. (external link)
• Karianne Fjeld; Emmanuelle Masson; Jin-Huan Lin et al. (2020). Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. (external link)
• Deirdre K. Tobias; Jordi Merino; Abrar Ahmad et al. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. (external link)
• Christoffer Drabløs Velde; Hallvard Reigstad; Erling Tjora et al. (2023). Medfødt hyperinsulinisme. (external link)
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• Laura Kind; Mark Driver; Arne Raasakka et al. (2023). Structural properties of the HNF-1A transactivation domain. (external link)
• Luis Francisco Hernandez Sanchez; Bram Burger; Rodrigo Alexander Castro Campos et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (external link)
• Marko Tijardović; Tamara Štambuk; Agata Juszczak et al. (2022). Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. (external link)
• Berit Skretting Solberg; Liv Grimstvedt Kvalvik; Johanne Telnes Instanes et al. (2023). Maternal Fiber Intake During Pregnancy and Development of Attention-Deficit/Hyperactivity Disorder Symptoms Across Childhood: The Norwegian Mother, Father, and Child Cohort Study. (external link)
• Oddmund Søvik; Jørn Sagen; Pål Rasmus Njølstad et al. (2002). Contributions to the MODY5 phenotype. (external link)
• Karol Estrada; Ingvild Aukrust; Lise Bjørkhaug et al. (2014). Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. (external link)
• Beate Skinningsrud; Benedicte Lie; Eystein S Husebye et al. (2010). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. (external link)
• Dominik Kopczynski; Harald Barsnes; Pål Rasmus Njølstad et al. (2017). PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. (external link)
• Andrew T. Hattersley; Jan Bruining; Julian Shield et al. (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (external link)

Conference poster

• Pål Rasmus Njølstad; L Bjørkhaug; Y Horikawa et al. (2000). Characterization of mutations in Norwegian MODY families by genetic and functional analyses. (external link)
• Alba Kaci; Pål Rasmus Njølstad; Ingvild Aukrust et al. (2017). The E3 SUMO ligase PIASy regulates the activity and stability of the transcription factor hepatocyte nuclear factor 1-alpha. (external link)
• Alba Kaci; Janne Molnes; Lise Bjørkhaug et al. (2017). Functional characterization of all HNF4A variants in the Norwegian MODY and the Norwegian Childhood Diabetes Registries. (external link)
• Laeya Abdoli Najmi; Sara Althari; Lise Bjørkhaug et al. (2017). Developing high throughput assays for functional classification of novel missense variants in HNF1A. (external link)
• Jørn Sagen; L Bostad; Pål Rasmus Njølstad et al. (2002). The kidney disease in MODY5. A clinicopathological investigation of a Norwegian MODY5 family. (external link)
• Lise Bjørkhaug; Alba Kaci; Magdalena Keindl et al. (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1. (external link)
• Laurie John Hannigan; Elizabeth Corfield; Guido Biele et al. (2021). The genomic basis of participation in the Norwegian Mother, Father and Child Cohort Study. (external link)
• Liv Aasmul; Erling Tjora; Oddrun Anita Gudbrandsen et al. (2014). From Manual to Automated Analysis of Lipase and Amylase in Duodenal Juice. (external link)
• Pål Rasmus Njølstad; Knut Dahl-Jørgensen; U Sarici et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype. (external link)
• Gaute Kjellevold Wathle; Trond Engjom; Birger Norderud Lærum et al. (2015). Secretin stimulated MRCP in the evaluation of exocrine pancreatic function in cystic fibrosis. (external link)
• Lise Bjørkhaug; Lorentze Hornnes; Alba Kaci et al. (2017). Functional analysis of various HNF4A variants identifies increased transactivation function of R85W causing the mutation specific phenotype of neonatal hyperinsulinism and Fanconi syndrome. (external link)
• Oddmund Søvik; G E Matre; U Rishaug et al. (2002). familial hyperinsulinemic hypoglycemia with a mutation in the gene encoding short-chain 3-hydroxyacyl-coa dehydrogenase. (external link)
• Anders Molven; G E Matre; E Jellum et al. (2002). A link between fatty acid oxidation and insulin secretion in the gen for short-chain 3-hydrozyacyl-CoA dehydrogenase leads to severe neonatal hypoglycemia with hyperinsulinism. (external link)
• L Bjørkhaug; Jørn Sagen; P Thorsby et al. (2002). Hepatocyte nuclear factor-1alpha gene mutations and diabetes in Norway. (external link)
• Espen Moen Eilertsen; Rosa Catherine Gillespie Cheesman; Ziada Ayorech et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (external link)
• L. Bjørkhaug; A. Molven; Per Thorsby et al. (1999). A molecular survey of norwegian families with MODY-type diabetes. (external link)
• Lise Bjørkhaug; Ingvild Aukrust; Alba Kaci et al. (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics. (external link)
• Miguel Angel Juarez Garzon; Ksenia Kuznetsova; Divya Sri Priyanka Tallapragada et al. (2024). Pediatric Diabetes Clustering: Phenotypic and polygenic risk analysis. (external link)
• Jørn Sagen; Pål Rasmus Njølstad; Å Sivertsen et al. (2002). Role of HNF-1beta and Msx-1 in vaginal aplasie. (external link)
• Alba Kaci; Ingvild Aukrust; Lise Bjørkhaug et al. (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics. (external link)
• Pål Rasmus Njølstad; Knut Dahl-Jørgensen; U Sarici et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glukoinase mutations linked to severity of phenotype. (external link)
• Jan-Inge Bjune; Christine Haugen; Oddrun Anita Gudbrandsen et al. (2018). Irx5 regulates body weight via amyloid precursor protein and mitochondrial respiration in adipocytes. (external link)
• Jan-Inge Bjune; Christine Haugen; Oddrun Anita Gudbrandsen et al. (2018). Irx5 regulates body weight via amyloid precursor protein (App) and mitochondrial respiration in adipocytes. (external link)

Conference lecture

• Elizabeth Claire Corfield; Oleksandr Frei; Alexey Shadrin et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline. (external link)
• Pål Rasmus Njølstad; B. N. Cockburn; G. I. Bell et al. (1998). A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene. (external link)
• Pål Rasmus Njølstad (2002). Sikring av prøver ved alvorlig sykdomm og død. (external link)
• Pål Rasmus Njølstad (2002). Arvelig diabetes - også relevant for svangerskapsdiabetes?. (external link)
• Pål Rasmus Njølstad (2005). Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency. (external link)
• P.R. Njølstad; Hans Geir Eiken; H. Hassounbbe et al. (1996). Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose. (external link)
• PR Njølstad; T Lindner; Y Horikawa et al. (1999). Progressive renal dysfunction, maturity-onset diabetes of the young and genital malformations in a family with a twenty-five amino acid deletion in the DNA-binding domain of hepatocyte nuclear factor-1ß. (external link)
• Anders Molven; U Rishaug; G E Matre et al. (2001). Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach. (external link)
• Vibeke Gagnum; Lars Christian Stene; L Sandvik et al. (2015). Causes of dealth in a cohort of childhood-onset type 1 diabetes diagnosed during 1973-2012. A Nationwide population-based study in Norway.. (external link)
• Pål Rasmus Njølstad (2002). Diabetes og genetiske defekter i beta-cellens nettverk av faktorer. (external link)
• Pål Rasmus Njølstad; A. O. M. Wilkie; S. J. Pedersen (1997). Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2. (external link)
• M. Tansek; Pål Rasmus Njølstad; D. Undlien et al. (1998). Kongenitt diabetes: Omtale av to tilfeller. (external link)
• Oddmund Søvik; T. Lindner; Pål Rasmus Njølstad et al. (1998). Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-. (external link)
• Jørn Sagen; Pål Rasmus Njølstad; Oddmund Søvik (2002). Searching for MODY6 in Norwegian diabetic subjects. (external link)
• PR Njølstad; Hans Geir Eiken; Jaran Apold (1995). A large Norwegian family with beta-spectrin associated hereditary spherocytosis. (external link)
• Ziada Ayorech Lennox; Neil Davies; Laurie John Hannigan et al. (2020). Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study. (external link)
• Oddmund Søvik; Jørn Sagen; Pål Rasmus Njølstad et al. (2001). A case of MODY5 with central nervous system involvement. (external link)
• Pål Rasmus Njølstad (2010). Single gene disorders causing diabetes. (external link)
• Oddmund Søvik; T. Lindner; Pål Rasmus Njølstad et al. (1998). A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b. (external link)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). Mody 3 i en norsk familie. (external link)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). MODY3 in a Norwegian family with severe diabetic eye complications. (external link)
• Pål Rasmus Njølstad (2005). A novel syndrome of diabetes and exocrine deficiency. (external link)
• Pål Rasmus Njølstad (2001). Permanent neonatal diabetes mellitus and MODY. (external link)
• Oddmund Søvik; PR Njølstad; Lene Bjørkhaug et al. (1999). Maturity onset diabetes of the young (MODY): A Norwegian experience. (external link)
• Pål Rasmus Njølstad (2002). MODY and neonatal diabetes. (external link)
• Pål Rasmus Njølstad (2002). Overvekt hos barn og unge: Økning? Behandling i almenpraksis?. (external link)
• Pål Rasmus Njølstad (2002). MODY og nyfødt-diabetes. (external link)
• Pål Rasmus Njølstad (2002). MODY og type 2 diabetes hos barn og unge. (external link)
• Alba Kaci; Ingvild Aukrust; Pål Rasmus Njølstad et al. (2019). Functional characterization of diabetes gene variants is important for precision medicine. (external link)
• P.R. Njølstad; H. Hassoun; J. Palek et al. (1996). A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis. (external link)
• Pål Rasmus Njølstad; L Bjørkhaug; A Molven et al. (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes. (external link)
• A Stride; M Vaxillaire; T Tuomi et al. (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (external link)
• Pål Rasmus Njølstad (2010). Monogenic diabetes: An example of translational medicine. (external link)
• Lene Bjørkhaug; PR Njølstad; P Thorsby et al. (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young. (external link)
• Jan-Inge Bjune; Samantha Laber; Laurence Dyer et al. (2021). Epigenetic control of adipogenesis by Irx3. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik (1998). Maturity-onset diabetes of the young (MODY). (external link)
• Pål Rasmus Njølstad (2002). Adipositas. (external link)
• Pål Rasmus Njølstad (2002). Gynekomasti. (external link)
• Pål Rasmus Njølstad (2002). Molekylærgenetisk diagnostikk. (external link)
• Jørn Sagen; Pål Rasmus Njølstad; Å Sivertsen et al. (2002). Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi. (external link)
• Pål Rasmus Njølstad; L Bjørkhaug; Louise Grevle et al. (2000). Studies of HNF-1alfa mutations in Norwegian MODY3 families. (external link)
• Pål Rasmus Njølstad (2010). Carboxyl-ester lipase and diabetes. (external link)
• Pål Rasmus Njølstad (2010). CEL mutations and pancreatic dysfunction. (external link)
• Pål Rasmus Njølstad (2010). Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?. (external link)
• Pål Rasmus Njølstad (2010). Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment. (external link)

Academic literature review

• Jason Flannick; Stefan Johansson; Pål Rasmus Njølstad (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (external link)
• Øyvind Helgeland; Jens Kristoffer Hertel; Anders Molven et al. (2015). The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). (external link)
• Anders Molven; Pål Rasmus Njølstad (2011). Role of molecular genetics in transforming diagnosis of diabetes mellitus. (external link)
• Pål Rasmus Njølstad; Jens Kristoffer Hertel; Oddmund Søvik et al. (2010). Fremskritt innen diabetesgenetikk. (external link)
• Ingfrid S. Haldorsen; Helge Ræder; Mette Vesterhus et al. (2012). The role of pancreatic imaging in monogenic diabetes mellitus. (external link)
• Bente Berg Johansson; Karianne Fjeld; Khadija el Jellas et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (external link)

Letter to the editor

• Helga Salvesen; Pål Rasmus Njølstad (2005). Barn ingen hindring. (external link)
• Pål Rasmus Njølstad (2000). Forsinket diagnose av hereditær episodisk ataksi. (external link)
• Eba Hathout; John Mace; Graeme I. Bell et al. (2006). Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. (external link)

Research report

• Ragna Bugge Askeland; Laurie John Hannigan; Helga Ask et al. (2020). Early manifestations of genetic risk for neurodevelopmental disorders. (external link)
• Robyn E Wootton; Rebecca B. Lawn; Maria Christine Magnus et al. (2022). Health behaviours prior to pregnancy and fertility outcomes: Triangulation of evidence in the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Hans Randby; PR veileder Njølstad (1999). Mutasjoner i veksthormonreseptorgenet hos idiopatisk kortvokste barn. (external link)
• Pål Rasmus Njølstad; Anders Molven; Leif Groop (2009). Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. (external link)
• Robert Bjerknes; G. Andersen; K. Miljeteig et al. (1997). Kompetanseutvikling ved Barneklinikken, Haukeland Sykehus. (external link)
• Elizabeth Claire Corfield; Oleksandr Frei; Alexey Shadrin et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1. (external link)
• Laurie John Hannigan; Ragna Bugge Askeland; Helga Ask et al. (2020). Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders. (external link)

Editorial/Leader article

• Pål Rasmus Njølstad; Anders Molven (2012). To test, or not to test: time for a MODY calculator?. (external link)
• Dagfinn Aarskog; Pål Rasmus Njølstad (2001). Klinisk molekylærmedisin: en introduksjon. (external link)
• Pål Rasmus Njølstad (2001). Bare barn?. (external link)
• Robert Bjerknes; Brit Skadberg; Pål Rasmus Njølstad (2001). Inhalasjonssteroider og vekst. (external link)
• PR Njølstad; Anders Molven (2003). Forskere diskuterte arv og diabetes. (external link)
• Anders Molven; Pål Rasmus Njølstad; Frank Ulrich Weiss (2015). Lipase gene fusion: a new route to chronic pancreatitis. (external link)
• Helge Ræder; Anders Molven; Pål Rasmus Njølstad (2012). Skreddersydd medisin eller narsissomikk?. (external link)

Journal corrigendum

• Pol Solé-Navais; Christopher Flatley; Valgerdur Steinthorsdottir et al. (2023). Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight (Nature Genetics, (2023), 55, 4, (559-567), 10.1038/s41588-023-01343-9). (external link)
• Katherine A. Kentistou; Lena R. Kaisinger; Stasa Stankovic et al. (2024). Correction to: Understanding the genetic complexity of puberty timing across the allele frequency spectrum (Nature Genetics, (2024), 56, 7, (1397-1411), 10.1038/s41588-024-01798-4). (external link)
• Valérie Turcot; Øyvind Helgeland; Oddgeir Lingaas Holmen et al. (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (external link)
• Øyvind Helgeland; Marc Vaudel; Pol Sole-Navais et al. (2024). Correction to: Characterization of the genetic architecture of infant and early childhood body mass index (Nature Metabolism, (2022), 4, 3, (344-358), 10.1038/s42255-022-00549-1). (external link)
• Valérie Turcot; Yingchang Lu; Heather M. Highland et al. (2019). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x). (external link)
• Robert K. Semple; Kashyap A. Patel; Sungyoung Auh et al. (2024). Correction to: Genotype-stratified treatment for monogenic insulin resistance: a systematic review (Communications Medicine, (2023), 3, 1, (134), 10.1038/s43856-023-00368-9). (external link)

Journal review

• Pål Rasmus Njølstad (2000). Klage til Norsk Pasientskadeerstatning basert på opplysninger hentet fra internett. (external link)
• Pål Rasmus Njølstad (2000). Ibuprofen ved persisterende ductus arteriosus. (external link)
• Pål Rasmus Njølstad; Karen Rosendahl; Lars Ersland (2000). Magnetisk resonans - forkortinger og ordforklaringer. (external link)
• Pål Rasmus Njølstad (2000). Norsk Pasientskadeerstatning. 1999. (external link)
• Pål Rasmus Njølstad (2002). Bra om barnemat. (external link)
• Pål Rasmus Njølstad (2002). Internasjonal pris til Dagfinn Aarskog. (external link)
• Pål Rasmus Njølstad (2002). Aktuell ny nordisk lærebok i pediatri. (external link)
• Pål Rasmus Njølstad (2000). Endometriecancer etter østrogenbehandling. (external link)
• Pål Rasmus Njølstad (2000). Forsinket diagnostisering av medfødt hoftedysplasi. (external link)
• Pål Rasmus Njølstad (2000). Erstatning og oppreisning for fjerning av friske eggstokker. (external link)

Lecture

• Ziada Ayorech; Neil Davies; George Davey Smith et al. (2023). Causal risk factors for childhood eating behaviours and adulthood anorexia nervosa. A between and within family Mendelian randomisation study. (external link)
• T. Lindner; Pål Rasmus Njølstad; Oddmund Søvik (1998). Twenty-five amino acid deletion in the transcription factor HNF-1ß associated kidney dysfunction and type 2 diabetes mellitus. (external link)
• Pål Rasmus Njølstad (2002). Diabetes og genetikk. (external link)

Popular science article

• Anders Molven; Pål Rasmus Njølstad (2010). Monogen diabetes i Norge. (external link)
• Pål Rasmus Njølstad; Anders Molven (2010). Genetikk i fokus. (external link)
• Pål Rasmus Njølstad; Anders Molven (2003). Forskere diskuterte arv og diabetes. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik (2003). Neonatal diabetes - permanent eller transient?. (external link)
• Ingfrid S. Haldorsen; Pål Rasmus Njølstad (2011). Bildediagnostikk av pankreas ved monogen diabetes. (external link)
• Pål Rasmus Njølstad (1991). Onkogener - gener som kan forårsake kreftutvikling. (external link)
• Anders Molven; Pål Rasmus Njølstad (1991). Når beina sitter på hodet! Om bananfluer, fosterutvikling og homeobokser. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik (2001). Løser gåten om arvelig diabetes. (external link)
• Pål Rasmus Njølstad; L Bjørkhaug (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. (external link)
• Pål Rasmus Njølstad; Jørn V. Sagen (2003). Klinisk molekylærmedisin (4): Koblingsanalyser. (external link)

Conference abstract

• Torild Skrivarhaug; Lars Christian Stene; Hanne Strøm et al. (2010). Increasing incidence of childhood onset type 1 diabetes in Norway. (external link)
• Karianne Fjeld; Janniche Torsvik; Stefan Johansson et al. (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. (external link)
• Gaute K Wathle; Erling Tjora; Pål Rasmus Njølstad et al. (2013). Assessment of exocrine pancreatic funtion by secretin-stimulated MRCP and DWI in healthy controls and in patients with monogenic diabetes. (external link)
• O Porzio; O Massa; V Cunsolo et al. (2004). Mutations of transglutaminase 2 and early onset Type 2 diabetes. (external link)
• Espen Moen Eilertsen; Rosa Catherine Gillespie Cheesman; Ziada Ayorech et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (external link)
• Janniche Torsvik; Bente Berg Johansson; Stefan Johansson et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (external link)
• Pål Rasmus Njølstad; Anders Molven; Leif Groop (2009). The Genotypes and Phenotypes of Diabetes. (external link)
• Henrik B. Thybo Christesen; Nicholas D. Tribble; Anders Molven et al. (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. (external link)
• Torild Skrivarhaug; Marit Bjørnvold; Dag Erik Undlien et al. (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. (external link)
• Sven Pörksen; Lene Bjerke Laborie; Lotte B. Nielsen et al. (2008). SUR mutation in type 1 diabetes: autoimmunity prevents sulfonylurea rescue of diabetes caused by SUR1 mutation. Results from the Hvidore Study Group. (external link)
• Stefan Johansson; Jens Kristoffer Hertel; Kristian Midthjell et al. (2008). The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. (external link)
• Mette Vesterhus; Stefan Johansson; Helge Ræder et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (external link)
• P Tammaro; C Girard; Janne Molnes et al. (2005). Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. (external link)
• Carine de Beaufort; Chas T. Skinner; Peter G F Swift et al. (2008). Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. (external link)
• HL Allen; Stefan Johansson; S Ellard et al. (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (external link)
• Anders Molven; Janniche Torsvik; Bente Berg Johansson et al. (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Amanda Hughes; Tim Morris; Ziada Ayorech et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (external link)

Academic book chapter

• Pål Rasmus Njølstad; Anders Molven; Oddmund Søvik (2005). Diagnosis and mangement of MODY in a pediatric setting. (external link)
• Pål Rasmus Njølstad (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. (external link)
• Pål Rasmus Njølstad; Oddmund Søvik (2004). Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. (external link)
• Anders Molven; Geir Helgeland; Tone Sandal et al. (2012). The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency. (external link)
• Oddmund Søvik; Jørn V. Sagen; Pål Rasmus Njølstad (2008). MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations. (external link)
• Anders Molven; Pål Rasmus Njølstad; Anders Fjose (1993). Pattern formation in fish embryos: Characterization of homebox genes from the zebrafish (Brachydranio rerio). (external link)

Doctoral thesis (PhD)

• Marie Holm Solheim; Pål Rasmus Njølstad (2018). PI 3-kinase regulation of mice and men: Novel aspects of insulin and growth factor signaling. (external link)
• Henrik Underthun Irgens; Pål Rasmus Njølstad; Anders Molven (2017). Targeted clinical and genetic investigations to identify monogenic diabetes. (external link)
• Pål Rasmus Njølstad (1989). Structural and functional analysis of vertebrate homeobox genes using the zebrafish (Brachydanio rerio) as a model. (external link)
• Heiko Bratke; Torild Skrivarhaug; Hanna Dis Margeirsdottir et al. (2025). Pediatric Diabetes Care in Norway : Glycemic Results and Health-Related Quality of Life. (external link)

Media feature article

• Oddmund Søvik; Pål Rasmus Njølstad; I. Følling et al. (1998). Hyperexacitability to sulphonylurea in MODY3. (external link)
• Pål Rasmus Njølstad (2013). De tunge barna. (external link)

Media interview

• Stefan Johansson; Pål Rasmus Njølstad (2022). Har oppdaga kvifor Alvin er tjukkare enn Arthur. (external link)

See a complete overview of publications in NVA.