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

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

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

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

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

https://mitt.uib.no/courses/24343

 

Errata

• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol 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)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur 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)
• Turcot, Valérie; Lu, Yingchang; Highland, Heather M. 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)
• Turcot, Valérie; Helgeland, Øyvind; Holmen, Oddgeir Lingaas 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)

Academic article

• Verhoef, Ellen; Allegrini, Andrea G.; Jansen, Philip R. 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)
• Brekke, Ranveig Seim; Svanbring, Anny Gravdal; Jellas, Khadija el et al. (2024). Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas. (external link)
• Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (external link)
• Kuznetsova, Ksenia; Vasicek, Jakub; Skiadopoulou, Dafni et al. (2024). Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. (external link)
• Artaza, Haydee; Eriksson, Daniel; Lavrichenko, Ksenia et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (external link)
• Jaitner, Annika; Vaudel, Marc; Tsaneva-Atanasova, Krasimira et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (external link)
• Solé-Navais, Pol; Juodakis, Julius; Ytterberg, Karin et al. (2024). Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. (external link)
• Olwi, Duaa I.; Kaisinger, Lena R.; Kentistou, Katherine A. et al. (2024). Likely causal effects of insulin resistance and IGF-1 bioaction on childhood and adult adiposity: a Mendelian randomization study. (external link)
• Artaza Alvarez, Haydee; Lavrichenko, Ksenia; Wolff, Anette Susanne Bøe et al. (2024). Rare copy number variant analysis in case–control studies using snp array data: a scalable and automated data analysis pipeline. (external link)
• Budu-Aggrey, Ashley; Kilanowski, Anna; Sobczyk, Maria K. et al. (2023). European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. (external link)
• Solberg, Berit Skretting; Kvalvik, Liv Grimstvedt; Instanes, Johanne Telnes 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)
• Beaumont, Robin N.; Flatley, Christopher; Vaudel, Marc et al. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. (external link)
• Vasicek, Jakub; Skiadopoulou, Dafni; Kuznetsova, Ksenia et al. (2023). Finding haplotypic signatures in proteins. (external link)
• Svalastoga, Pernille; Kaci, Alba; Molnes, Janne 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)
• Aranda-Guillén, Maribel; Røyrvik, Ellen Christine; Fletcher-Sandersjöö, Sara et al. (2023). A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. (external link)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (external link)
• D'Urso, Shannon; Moen, Gunn-Helen Øiseth; Hwang, Liang-Dar et al. (2023). Intrauterine Growth and Offspring Neurodevelopmental Traits A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Sanchez, Luis Francisco Hernandez; Burger, Bram; Campos, Rodrigo Alexander Castro et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (external link)
• Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Øyvind et al. (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. (external link)
• Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (external link)
• Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S. et al. (2022). Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. (external link)
• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (external link)
• Hughes, Amanda M.; Sanderson, Eleanor; Morris, Tim et al. (2022). Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study. (external link)
• Kvalvik, Liv Grimstvedt; Klungsøyr, Kari; Igland, Jannicke et al. (2022). Association of sweetened carbonated beverage consumption during pregnancy and ADHD symptoms in the offspring: a study from the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Ip, Hill F.; van der Laan, Camiel M.; Krapohl, Eva M. L. et al. (2021). Genetic association study of childhood aggression across raters, instruments, and age. (external link)
• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (external link)
• Lavrichenko, Ksenia; Johansson, Stefan; Jonassen, Inge (2021). Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. (external link)
• Sønderby, Ida Elken; van der Meer, Dennis; Moreau, Clara et al. (2021). 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. (external link)
• Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel et al. (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. (external link)
• Berger, Amund Holte; Bratland, Eirik; Sjøgren, Thea et al. (2021). Transcriptional changes in regulatory T cells from patients with autoimmune polyendocrine syndrome type 1 suggest functional impairment of lipid metabolism and gut homing. (external link)
• Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam et al. (2021). The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity. (external link)
• Berland, Siren; Rustad, Cecilie; Bentsen, Mariann et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (external link)
• Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (external link)
• Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J. et al. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. (external link)
• Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (external link)
• Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (external link)
• Fjeld, Karianne; Masson, Emmanuelle; Lin, Jin-Huan 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)
• Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (external link)
• Rovira, Paula; Demontis, Ditte; Sánchez-Mora, Cristina et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (external link)
• Warrington, Nicole Maree; Beaumont, Robin N.; Horikoshi, Momoko et al. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. (external link)
• Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés et al. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. (external link)
• Qiao, Zhen; Zheng, Jie; Helgeland, Øyvind et al. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. (external link)
• van der Meer, Dennis; Sønderby, Ida Elken; Kaufmann, Tobias et al. (2019). Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. (external link)
• Liu, Xueping; Helenius, Dorte; Skotte, Line et al. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (external link)
• Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (external link)
• Bradfield, Jonathan P.; Vogelezang, Suzanne; Felix, Janine F. et al. (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. (external link)
• Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt et al. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. (external link)
• Corominas, Jordi; Klein, Marieke; Zayats, Tetyana et al. (2018). Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. (external link)
• Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K. et al. (2018). Analysis of shared heritability in common disorders of the brain. (external link)
• Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (external link)
• Smajlagic, Dinka; Jacobsen, Kaya Kvarme; Myrum, Craig et al. (2018). Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. (external link)
• Turcot, Valérie; Lu, Yingchang; Highland, Heather M. et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (external link)
• Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter et al. (2018). Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (external link)
• Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina et al. (2017). Rare and low-frequency coding variants alter human adult height. (external link)
• el Jellas, Khadija; Hoem, Dag; Hagen, Kristin Gjerde et al. (2017). Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival. (external link)
• Merker, Sören; Reif, Andreas; Ziegler, Georg C. et al. (2017). SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder. (external link)
• Johansson, Bente Berg; Irgens, Henrik Underthun; Molnes, Janne 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)
• Macia, Maxence S.; Halbritter, Jan; Delous, Marion et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Dalva, Monica; el Jellas, Khadija; Steine, Solrun et al. (2017). Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. (external link)
• Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E. et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (external link)
• Shadrin, Alexey A.; Smeland, Olav Bjerkehagen; Zayats, Tetyana et al. (2017). Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment. (external link)
• Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (external link)
• Sagen, Jørn V.; Bjørkhaug, Lise; Haukanes, Bjørn Ivar et al. (2017). The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. (external link)
• Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune et al. (2017). In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. (external link)
• Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (external link)
• Fjeld, Karianne; Beer, Sebastian; Johnstone, Marianne 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)
• Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge et al. (2016). Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. (external link)
• Richards, Jennifer L.; Kramer, Michael S.; Deb-Rinker, Paromita et al. (2016). Temporal trends in late preterm and early term birthrates in 6 high-income countries in North America and Europe and association with clinician-initiated obstetric interventions. (external link)
• Morken, Nils-Halvdan; Skjaerven, Rolv; Richards, Jennifer L. et al. (2016). Adverse infant outcomes associated with discordant gestational age estimates. (external link)
• Zayats, Tetyana; Jacobsen, Kaya Kvarme; Kleppe, Rune et al. (2016). Exome chip analyses in adult attention deficit hyperactivity disorder. (external link)
• Klein, Marieke; Berger, Stefanie; Hoogman, Martine et al. (2016). Meta-analysis of the DRD5 VNTR in persistent ADHD. (external link)
• Ding, Yunpeng; Pedersen, Eva Ringdal; Johansson, Stefan et al. (2016). B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris. (external link)
• Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (external link)
• Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• Brevik, Erlend Joramo; van Donkelaar, Marjolein M J; Weber, Heike et al. (2016). Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. (external link)
• Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• Myrum, Craig; Giddaluru, Sudheer; Jacobsen, Kaya Kvarme et al. (2015). Common variants in the ARC gene are not associated with cognitive abilities. (external link)
• Zhang, Ge; Bacelis, Jonas; Lengyel, Candice et al. (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. (external link)
• Jacobsen, Kaya Kvarme; Kleppe, Rune; Johansson, Stefan et al. (2015). Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE. (external link)
• Weber, Heike; Kittel-Schneider, Sarah; Heupel, Julia et al. (2015). On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. (external link)
• Sánchez-Mora, Cristina; Ramos-Quiroga, Josep Antonio; Bosch, Rosa et al. (2015). Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. (external link)
• Jacobsen, Kaya Kvarme; Nievergelt, Caroline M.; Zayats, Tetyana et al. (2015). Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder . (external link)
• Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (external link)
• Fjeld, Karianne; Weiss, Frank Ulrich; Lasher, Denise et al. (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. (external link)
• Oftedal, Bergithe Eikeland; Hellesen, Alexander; Erichsen, Martina Moter et al. (2015). Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. (external link)
• Irgens, Henrik Underthun; Fjeld, Karianne; Johansson, Bente Berg et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (external link)
• Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (external link)
• Torsvik, Janniche; Johansson, Bente Berg; Dalva, Monica et al. (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (external link)
• Rafaelsen, Silje Hjorth; Johansson, Stefan; Ræder, Helge et al. (2014). Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature. (external link)
• Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (external link)
• Rainger, Joe; Pehlivan, Davut; Johansson, Stefan et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
• Flannick, Jason; Thorleifsson, G; Beer, N et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (external link)
• Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Flannick, Jason; Beer, Nicola L.; Bick, Alexander G. 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)
• Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (external link)
• Mavroconstanti, Thegna; Johansson, Stefan; Winge, Ingeborg et al. (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. (external link)
• Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (external link)
• Ragvin, Anja; Fjeld, Karianne; Weiss, F. Ulrich et al. (2013). The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. (external link)
• Jacobsen, Kaya Kvarme; Halmøy, Anne; Sánchez-Mora, Cristina et al. (2013). DISC1 in adult ADHD patients: An association study in two European samples. (external link)
• Rafaelsen, Silje Hjorth; Ræder, Helge; Fagerheim, Anne Kristine et al. (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (external link)
• Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar et al. (2013). Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. (external link)
• Rødahl, Eyvind; Knappskog, Per; Majewski, Jacek et al. (2013). Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. (external link)
• Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (external link)
• Håvik, Bjarte; Degenhardt, Franziska A.; Johansson, Stefan et al. (2012). DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge 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)
• Johansson, Bente Berg; Torsvik, Janniche; Bjørkhaug, Lise et al. (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. (external link)
• Kilpelainen, TO; Qi, L; Brage, S. 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)
• Landaas, Elisabeth Toverud; Johansson, Stefan; Halmøy, Anne et al. (2011). Bipolar disorder risk alleles in adult ADHD patients. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily et al. (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. (external link)
• Landaas, Elisabeth Toverud; Johansson, Stefan; Halmøy, Anne et al. (2011). No association between the serotonin transporter gene polymorphism 5-HTTLPR and cyclothymic temperament as measured by TEMPS-A. (external link)
• Sánchez-Mora, Cristina; Ribases, Marta; Casas, Miquel et al. (2011). Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four european populations. (external link)
• Berk, Michael; Johansson, Stefan; Wray, Naomi R et al. (2011). Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. (external link)
• Reif, Andreas; Nguyen, T. Trang; Weissflog, Lena et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (external link)
• Halmøy, Anne; Johansson, Stefan; Winge, Ingeborg et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (external link)
• Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben ; Johansson, Stefan et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (external link)
• Ødegaard, Ketil Joachim; Greenwood, Tifany A.; Johansson, Stefan et al. (2010). A genome-wide association study of bipolar disorder and comorbid migraine. (external link)
• Arcos-Burgos, Mauricio; Jain, Mahim; Acosta, Maria T. et al. (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (external link)
• Torsvik, Janniche; Johansson, Stefan; Johansen, Anders et al. (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (external link)
• Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan et al. (2010). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. (external link)
• Sánchez-Mora, Cristina; Ribases, Marta; Ramos-Quiroga, Josep Antonio et al. (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. (external link)
• Allen, Hana Lango; Johansson, Stefan; Ellard, Sian et al. (2010). Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. (external link)
• Johansson, Stefan; Halmøy, Anne; Mavroconstanti, Thegna et al. (2010). Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations. (external link)
• Landaas, Elisabeth Thoverud; Johansson, Stefan; Jacobsen, Kaya Kvarme et al. (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. (external link)
• Halleland, Helene; Lundervold, Astri ; Halmøy, Anne et al. (2009). Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. (external link)
• Jansson, C; Nordenstedt, H; Wallander, MA et al. (2009). A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. (external link)
• Ribases, Marta; Bosch, Rosa; Hervas, Amaia et al. (2009). Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. (external link)
• Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Franke, Barbara; Vasquez, Alejandro Arias; Johansson, Stefan et al. (2009). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. (external link)
• Jansson, Catarina; Nordenstedt, Helena; Wallander, MA et al. (2008). Severe symptoms of gastro-oesophageal reflux disease are associated with cardovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. (external link)
• Magitta, Ng’weina Francis ; Bøe, AS; Johansson, S et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Vesterhus, Mette; Ræder, Helge; Johansson, Stefan et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (external link)
• Eide, Stig Åge; Ræder, H; Ræder, Helge et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (external link)
• Jansson, C; Nordenstedt, H; Wallander, MA et al. (2008). Severe symptoms of gastro-oesophageal reflux disease are associated with cardiovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, H 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)
• Johansson, Stefan; Halleland, Helene; Halmøy, Anne et al. (2008). Genetic Analyses of Dopamine Related Genes in Adult ADHD Patients Suggest an Association With the DRD5-Microsatellite Repeat, But Not With DRD4 or SLC6A3 VNTRs. (external link)
• Wolff, Anette Susanne Bøe; Oftedal, Bergithe Eikeland; Johansson, Stefan et al. (2008). AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (external link)
• Johansson, Stefan; Ræder, Helge; Eide, Stig Åge 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)
• Johansson, Stefan; Kagstrom, Bo; Shiriaev, Anton et al. (2007). Comparing one-shot and multi-shot methods for solving periodic Riccati equations. (external link)
• Raeder, Helge; Ræder, Helge; Bjorkhaug, Lise 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)
• Blomhoff, Anne; Olsson, M; Johansson, Stefan et al. (2006). Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes. (external link)
• Ræder, Helge; Johansson, Stefan; Holm, Pål I. et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (external link)
• Johansson, Stefan; Lie, Benedicte Alexandra; Pociot, Flemming et al. (2003). HLA association in type I diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes. (external link)
• Johansson, Stefan; Lie, Benedicte Alexandra; Combon-Thomsen, A et al. (2003). No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex. (external link)
• Johansson, Stefan; Lie, Benedicte Alexandra; Todd, J. A. et al. (2003). Evidence of at least two type 1 diabets susceptiblity genes in the HLA complex distinct from HLADQA1 and-DRB1. (external link)

Lecture

• Johansson, Stefan (2023). Hva har genene å si for et barns vektutvikling. (external link)

Interview Journal

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

Academic lecture

• Eide, Torunn Bjerve; Guassora, Ann Dorrit; Johansen, May-Lill et al. (2022). The Qualitative Toolbox of General Practice Research. (external link)
• Lennox, Ziada Ayorech; Davies, Neil; Hannigan, Laurie John et al. (2020). Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study. (external link)
• Corfield, Elizabeth; Smajlagic, Dinka; Connoly, Siobhan et al. (2019). Parent-of-origin and maternal effects in attention deficit hyperactivity disorder.. (external link)
• Lie, Benedicte Alexandra; Johansson, Stefan; Akselsen, Hanne Elisabeth et al. (2000). Strategies to identify a novel gene, located in the extended HLA class I region, involved in the development of type 1 diabetes. (external link)
• Johansson, Stefan; Lie, Benedicte Alexandra; Pociot, Flemming et al. (2000). HLA class III associations in type 1 diabetes may be secondary to linkage disequilibrium with a susceptibility gene located telomeric of HLA-B. (external link)

Abstract

• Hughes, Amanda; Morris, Tim; Ayorech, Ziada et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (external link)
• Molven, Anders; Torsvik, Janniche; Johansson, Bente Berg 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)
• Ødegaard, Ketil Joachim; Johansson, Stefan; Greenwood, Tifany A. et al. (2010). A genetic study of bipolar disorder and co-morbid migraine. (external link)
• Allen, HL; Johansson, Stefan; Ellard, S et al. (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (external link)
• Haavik, Jan; Johansson, Stefan; Knappskog, Per Morten et al. (2009). From synthesis to uptake - serotonergic genes in adult ADHD. (external link)
• Franke, B; Johansson, Stefan; Cormand, B et al. (2009). From childhood to adulthood - testing the IMAGE candidates in IMpACT. (external link)
• Cormand, B; Ribasés, M; Ramos-Quiroga, JA et al. (2009). The dopamine system in adult ADHD - findings from the IMpACT study. (external link)
• Johansson, Stefan; Hertel, Jens Kristoffer; Midthjell, Kristian 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)
• Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (external link)
• Fjeld, Karianne; Torsvik, Janniche; Johansson, Stefan et al. (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. (external link)
• Vesterhus, Mette; Johansson, Stefan; Ræder, Helge et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (external link)

Poster

• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2020). Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik et al. (2020). Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.. (external link)
• Pakdaman, Yasaman; Austad, Eirik; Denker, Elsa et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (external link)
• Johansson, Stefan; Halmøy, Anne; Halleland, Helene et al. (2006). Genetic Analysis of Candidate Genes in Adult ADHD Patients from Norway. (external link)

Academic literature review

• Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (external link)
• Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (external link)
• Zayats, Tetyana; Johansson, Stefan; Haavik, Jan (2015). Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes?. (external link)
• Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders et al. (2015). The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). (external link)
• Franke, Barbara; Faraone, Stephen V.; Asherson, Philip et al. (2012). The genetics of attention deficit/hyperactivity disorder in adults, a review. (external link)
• Haavik, Jan; Halmøy, Anne; Hegvik, Tor-Arne et al. (2011). Maternal genotypes as predictors of offspring mental health; the next frontier of genomic medicine?. (external link)
• Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund et al. (2010). Fremskritt innen diabetesgenetikk. (external link)

Letter to the editor

• Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon et al. (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. (external link)

Masters thesis

• Berger, Amund Holte; Johansson, Stefan; Knappskog, Per (2018). Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. (external link)

Short communication

• Lozić, Bernarda; Johansson, Stefan; Lovric Kojundzic, Sanja et al. (2016). Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. (external link)
• Melone, M; Pellegrino, M; Nolano, M et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. . (external link)

Reader opinion piece

• Mckinney, Jeffrey; Johansson, Stefan; Halmøy, Anne et al. (2008). A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. (external link)

See a complete overview of publications in Cristin.

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

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

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

Some selected publications:

https://rdcu.be/cJxow

Helgeland, O., M. Vaudel, P. B. Juliusson, O. Lingaas Holmen, J. Juodakis, J. Bacelis, B. Jacobsson, H. Lindekleiv, K. Hveem, R. T. Lie, G. P. Knudsen, C. Stoltenberg, P. Magnus, J. V. Sagen, A. Molven, S. Johansson*, and P. R. Njolstad*: Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth, Nat Commun, 10: 4448. 2019.

Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grutzmann R, Mayerle J, Mossner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Ferec C, Witt H, Lerch MM, Njolstad PR, Johansson S, Molven A:

Warrington, N. M.*, R. N. Beaumont*, M. Horikoshi*, F. R. Day*, O. Helgeland*, (n=259 authors), S. Johansson, K. K. Ong, M. I. McCarthy, J. R. B. Perry, D. M. Evans, and R. M. Freathy: Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors, Nat Genet, 51: 804-14, 2019..

Smajlagić D, Lavrichenko K, Berland S, Helgeland Ø, Knudsen GP, Vaudel M, Haavik J, Knappskog PM, Njølstad PR, Houge G, Johansson S. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. Eur J Hum Genet. 29:205-15, 2021.

Hertel JK*, Johansson S*, Sonestedt E, Jonsson A, Lie RT, Platou CG, Nilsson PM, Rukh G, Midthjell K, Hveem K, Melander O, Groop L, Lyssenko V, Molven A, Orho-Melander M, Njolstad PR: FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes 60:1637-1644, 2011.

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

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

Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, Ramos-Quiroga JA, Richarte V, Casas M, Mota NR, Grevet EH, Klein M, Corominas J, Bralten J, Galesloot T, Vasquez AA, Herms S, Forstner AJ, Larsson H, Breen G, Asherson P, Gross-Lesch S, Lesch KP, Cichon S, Gabrielsen MB, Holmen OL, Bau CH, Buitelaar J, Kiemeney L, Faraone SV, Cormand B, Franke B, Reif A, Haavik J, Johansson S. Exome chip analyses in adult attention deficit hyperactivity disorder. Transl Psychiatry. 2016 Oct 18;6(10):e923

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

Eriksson D, Royrvik EC, Aranda-Guillen M, Berger AH, Landegren N, Artaza H, (n=23 authors), Johansson S*, Kampe O*, Husebye ES*. GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nat Commun 12: 959. 2021.

(* Shared first/last authorships).

Partner (genomic/genetic analysis) in

• K.G. Jebsen Centre for Diabetes Research

• K.G. Jebsen Centre for Neuropsychiatric Research

• H2020-MSCA-ITN-2014: MiND                                             

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