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). (ekstern lenke)
• 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). (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)

Vitenskapelig artikkel

• Jaitner, Annika; Vaudel, Marc; Tsaneva-Atanasova, Krasimira et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (ekstern lenke)
• Artaza, Haydee; Eriksson, Daniel; Lavrichenko, Ksenia et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (ekstern lenke)
• 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. (ekstern lenke)
• Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (ekstern lenke)
• Kuznetsova, Ksenia G.; Vašíček, 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Solé-Navais, Pol; Juodakis, Julius; Ytterberg, Karin et al. (2024). Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. (ekstern lenke)
• 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. (ekstern lenke)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Sanchez, Luis Francisco Hernandez; Burger, Bram; Campos, Rodrigo Alexander Castro et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (ekstern lenke)
• Vasicek, Jakub; Skiadopoulou, Dafni; Kuznetsova, Ksenia et al. (2023). Finding haplotypic signatures in proteins. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (ekstern lenke)
• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (ekstern lenke)
• 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. (ekstern lenke)
• Berland, Siren; Rustad, Cecilie; Bentsen, Mariann et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (ekstern lenke)
• Lavrichenko, Ksenia; Johansson, Stefan; Jonassen, Inge (2021). Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (ekstern lenke)
• Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (ekstern lenke)
• Rovira, Paula; Demontis, Ditte; Sánchez-Mora, Cristina et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (ekstern lenke)
• 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. (ekstern lenke)
• Anttila, Verneri; Bulik-Sullivan, Brendan; Finucane, Hilary K. et al. (2018). Analysis of shared heritability in common disorders of the brain. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina et al. (2017). Rare and low-frequency coding variants alter human adult height. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E. et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (ekstern lenke)
• Macia, Maxence S.; Halbritter, Jan; Delous, Marion et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Zayats, Tetyana; Jacobsen, Kaya Kvarme; Kleppe, Rune et al. (2016). Exome chip analyses in adult attention deficit hyperactivity disorder. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Morken, Nils-Halvdan; Skjaerven, Rolv; Richards, Jennifer L. et al. (2016). Adverse infant outcomes associated with discordant gestational age estimates. (ekstern lenke)
• Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (ekstern lenke)
• Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
• Brevik, Erlend Joramo; van Donkelaar, Marjolein M J; Weber, Heike et al. (2016). Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Klein, Marieke; Berger, Stefanie; Hoogman, Martine et al. (2016). Meta-analysis of the DRD5 VNTR in persistent ADHD. (ekstern lenke)
• 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. (ekstern lenke)
• 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 . (ekstern lenke)
• Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (ekstern lenke)
• Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (ekstern lenke)
• Irgens, Henrik Underthun; Fjeld, Karianne; Johansson, Bente Berg et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Weber, Heike; Kittel-Schneider, Sarah; Heupel, Julia et al. (2015). On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. (ekstern lenke)
• Myrum, Craig; Giddaluru, Sudheer; Jacobsen, Kaya Kvarme et al. (2015). Common variants in the ARC gene are not associated with cognitive abilities. (ekstern lenke)
• 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). (ekstern lenke)
• Flannick, Jason; Thorleifsson, G; Beer, N et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (ekstern lenke)
• Rainger, Joe; Pehlivan, Davut; Johansson, Stefan et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (ekstern lenke)
• Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; Aukrust, Ingvild et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (ekstern lenke)
• 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. (ekstern lenke)
• Johansson, Stefan; Berland, Siren; Gradek, Gyri Aasland et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (ekstern lenke)
• 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. (ekstern lenke)
• Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (ekstern lenke)
• Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (ekstern lenke)
• Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (ekstern lenke)
• Jacobsen, Kaya Kvarme; Halmøy, Anne; Sánchez-Mora, Cristina et al. (2013). DISC1 in adult ADHD patients: An association study in two European samples. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (ekstern lenke)
• Håvik, Bjarte; Degenhardt, Franziska A.; Johansson, Stefan et al. (2012). DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. (ekstern lenke)
• Fiskerstrand, Torunn; Arshad, Najla; Haukanes, Bjørn Ivar et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (ekstern lenke)
• Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar et al. (2012). Exome sequencing and genetic testing for MODY. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Landaas, Elisabeth Toverud; Johansson, Stefan; Halmøy, Anne et al. (2011). Bipolar disorder risk alleles in adult ADHD patients. (ekstern lenke)
• Berk, Michael; Johansson, Stefan; Wray, Naomi R et al. (2011). Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Reif, Andreas; Nguyen, T. Trang; Weissflog, Lena et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Halmøy, Anne; Johansson, Stefan; Winge, Ingeborg et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (ekstern lenke)
• 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. (ekstern lenke)
• Ødegaard, Ketil Joachim; Greenwood, Tifany A.; Johansson, Stefan et al. (2010). A genome-wide association study of bipolar disorder and comorbid migraine. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Landaas, Elisabeth Thoverud; Johansson, Stefan; Jacobsen, Kaya Kvarme et al. (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. (ekstern lenke)
• 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. (ekstern lenke)
• Jansson, C; Nordenstedt, H; Wallander, MA et al. (2009). A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. (ekstern lenke)
• Halleland, Helene; Lundervold, Astri ; Halmøy, Anne et al. (2009). Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Vesterhus, Mette; Ræder, Helge; Johansson, Stefan et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Eide, Stig Åge; Ræder, H; Ræder, Helge et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (ekstern lenke)
• Johansson, Stefan; Kagstrom, Bo; Shiriaev, Anton et al. (2007). Comparing one-shot and multi-shot methods for solving periodic Riccati equations. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Ræder, Helge; Johansson, Stefan; Holm, Pål I. et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (ekstern lenke)
• Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)

Faglig foredrag

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

Vitenskapelig foredrag

• Eide, Torunn Bjerve; Guassora, Ann Dorrit; Johansen, May-Lill et al. (2022). The Qualitative Toolbox of General Practice Research. (ekstern lenke)
• 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. (ekstern lenke)
• Corfield, Elizabeth; Smajlagic, Dinka; Connoly, Siobhan et al. (2019). Parent-of-origin and maternal effects in attention deficit hyperactivity disorder.. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)

Intervju tidsskrift

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

Sammendrag/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. (ekstern lenke)
• 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. (ekstern lenke)
• Ødegaard, Ketil Joachim; Johansson, Stefan; Greenwood, Tifany A. et al. (2010). A genetic study of bipolar disorder and co-morbid migraine. (ekstern lenke)
• Haavik, Jan; Johansson, Stefan; Knappskog, Per Morten et al. (2009). From synthesis to uptake - serotonergic genes in adult ADHD. (ekstern lenke)
• Franke, B; Johansson, Stefan; Cormand, B et al. (2009). From childhood to adulthood - testing the IMAGE candidates in IMpACT. (ekstern lenke)
• Cormand, B; Ribasés, M; Ramos-Quiroga, JA et al. (2009). The dopamine system in adult ADHD - findings from the IMpACT study. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (ekstern lenke)
• 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. (ekstern lenke)
• Vesterhus, Mette; Johansson, Stefan; Ræder, Helge et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (ekstern lenke)

Poster

• 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.. (ekstern lenke)
• 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.. (ekstern lenke)
• Pakdaman, Yasaman; Austad, Eirik; Denker, Elsa et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (ekstern lenke)
• Johansson, Stefan; Halmøy, Anne; Halleland, Helene et al. (2006). Genetic Analysis of Candidate Genes in Adult ADHD Patients from Norway. (ekstern lenke)

Vitenskapelig oversiktsartikkel/review

• Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (ekstern lenke)
• Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (ekstern lenke)
• 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). (ekstern lenke)
• 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?. (ekstern lenke)
• Franke, Barbara; Faraone, Stephen V.; Asherson, Philip et al. (2012). The genetics of attention deficit/hyperactivity disorder in adults, a review. (ekstern lenke)
• Haavik, Jan; Halmøy, Anne; Hegvik, Tor-Arne et al. (2011). Maternal genotypes as predictors of offspring mental health; the next frontier of genomic medicine?. (ekstern lenke)
• Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund et al. (2010). Fremskritt innen diabetesgenetikk. (ekstern lenke)

Brev til redaktøren

• 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. (ekstern lenke)

Mastergradsoppgave

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

Short communication

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

Leserinnlegg

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

Se en full oversikt over publikasjoner i Cristin

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

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

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

Some selected publications:

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).