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

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

Stefan applies large scale genetics methods in patients and healthy individuals to understand how genetic variation influences normal development and how disease develops. He has done pioneering work to establish and consolidate genetic analysis expertise at three internationally recognized KG Jebsen Centres in Bergen; KGJ Neuropsychiatric research, KGJ Diabetes research and KGJ Autoimmune disorders, and at the Dept of Medical Genetics, Haukeland Univ hospital.  His work has led to the identification and publication of novel Mendelian (single gene) disease genes in diabetes and brain related disorders, and the early implementation of new genomic technologies to clinical diagnostics at the Western Health Region of Norway. He has also contributed to and led large scale genetic analyses across a wide range of disorders and traits that have shed light on how our genes shape our susceptibility to diabetes, Addisons´s disease, obesity and psychiatric disease. During this work, Stefan and his team have had a leading role in establishing large genetic data sets for research in large Norwegian biobanks. This includes the Norwegian Mother, Father and Child study (MoBa) a longitudinal birth cohort study following more than 100 000 children and their parents from pregnancy into adulthood.

Stefan´s research in MoBa aims at increasing our understanding of the mechanisms underlying our growth during the first years of life, childhood and adolescence and how it relates to later health and disease. Notably his research has identified of a unique set of common genetic variants with strong impact on weight-gain in infancy and early childhood and shown that the genetic control of weight development changes drastically from infancy, to childhood, and into adult life. 

Bio-sketch

My research interests relate to identification and characterization of genetic variation influencing human traits I´ve done pioneering work to establish and consolidate genetic analysis expertise at three internationally recognized KG Jebsen Centres in Bergen; KGJ Neuropsychiatric research, KGJ Diabetes research and KGJ Autoimmune disorders, and at the Dept of Medical Genetics, Haukeland Univ hospital. My work has led to the identification and publication of 8 novel Mendelian disease genes, including ground-breaking discoveries such as CEL (NatGen, 2006 & 2015) in diabetes traits and STUB1 (2014, -16,- 21) in brain disease. I´ve led the Norwegian component of genome wide studies both in international mega-consortia, but importantly also initiated and lead Norwegian-lead studies in adult-ADHD (2016 - biggest at that time), Early growth (2019 and 2022 - world´s most comprehensive characterization of growth across childhood) and first-ever Addison´s disease GWAS (Nat Com 2021). I´ve recently attracted very competitive funding from the NFR, Helse Vest and Novo Nordisk. 

The focus of my work during the last years has been to develop a program in my group towards understanding the mechanisms underlying our growth during the first years of life and how it relates to later health and disease. We´ve received funding from the NFR, Helse Vest, Novo Nordisk and the Trond Mohn foundation to  developed a broad set of genomic and statistical work applied to the open ended Norwegian Mother, Father and Child Birth Cohort (MoBa) study, involving 110,000 pregnancies recruited from 1999-2008 and followed ever since. We have extensive collaborations with international investigators and strengthened our work on methods development on trio and longitudinal studies. My group includes 2 senior researchers, 2 early career researchers, 1 postdocs, 5 PhDs, 1 Medical research track student and 1 laboratory engineer. This has recently led to ground-breaking new discoveries and publications from my group including last authorships in Nat Metabolism (2022), Nature Commun (2019,2021), Nature Genetics (2023,2023,2024), Bioinformatics (2021), EJHG (2021).

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

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

 

Vitenskapelig artikkel

• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (ekstern lenke)
• 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). (ekstern lenke)
• C Jansson; H Nordenstedt; MA Wallander 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)
• Ksenia Lavrichenko; Stefan Johansson; Inge Jonassen (2021). Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. (ekstern lenke)
• Henrik Underthun Irgens; Karianne Fjeld; Bente Berg Johansson et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (ekstern lenke)
• Sören Merker; Andreas Reif; Georg C. Ziegler et al. (2017). SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Bente Berg Johansson; Janniche Torsvik; Lise Bjørkhaug 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)
• Eyvind Rødahl; Per Knappskog; Jacek Majewski et al. (2013). Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. (ekstern lenke)
• Ida Elken Sønderby; Dennis van der Meer; Clara Moreau et al. (2021). 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. (ekstern lenke)
• Ksenia Kuznetsova; Jakub Vasicek; Dafni Skiadopoulou et al. (2024). Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. (ekstern lenke)
• Lise Bj. Gundersen; Stefan Johansson; Helge Ræder et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• Laeya Abdoli Najmi; Ingvild Aukrust; Jason Flannick et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (ekstern lenke)
• Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson et al. (2010). Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; Emily Sonestedt 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)
• Amanda M. Hughes; Eleanor Sanderson; Tim Morris 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)
• Eirini Marouli; Mariaelisa Graff; Carolina Medina-Gomez et al. (2017). Rare and low-frequency coding variants alter human adult height. (ekstern lenke)
• Valérie Turcot; Yingchang Lu; Heather M. Highland et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (ekstern lenke)
• Ólafur Ó. Gudmundsson; Gudmundur Bragi Walters; Andrés Ingason et al. (2019). Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. (ekstern lenke)
• Liv Grimstvedt Kvalvik; Kari Klungsøyr; Jannicke Igland 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)
• Tetyana Zayats; Kaya Kvarme Jacobsen; Rune Kleppe et al. (2016). Exome chip analyses in adult attention deficit hyperactivity disorder. (ekstern lenke)
• Charalompos Tzoulis; Tetyana Zayats; Per Knappskog et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Irene Hana Flønes; Pawel Szymon Sztromwasser; Kristoffer Haugarvoll et al. (2016). Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. (ekstern lenke)
• Dinka Smajlagic; Kaya Kvarme Jacobsen; Craig Myrum et al. (2018). Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. (ekstern lenke)
• Jennifer L. Richards; Michael S. Kramer; Paromita Deb-Rinker 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)
• Serge Eifes; Kishan Kumar Chudasama; Janne Molnes et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• Paula Rovira; Ditte Demontis; Cristina Sánchez-Mora et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (ekstern lenke)
• Elisabeth Toverud Landaas; Stefan Johansson; Anne Halmøy et al. (2011). No association between the serotonin transporter gene polymorphism 5-HTTLPR and cyclothymic temperament as measured by TEMPS-A. (ekstern lenke)
• 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. (ekstern lenke)
• Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (ekstern lenke)
• Bergithe Eikeland Oftedal; Amund Holte Berger; Øyvind Bruserud et al. (2023). A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. (ekstern lenke)
• Haydee Artaza; Daniel Eriksson; Ksenia Lavrichenko et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (ekstern lenke)
• Pol Solé-Navais; Christopher Flatley; Valgerdur Steinthorsdottir et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (ekstern lenke)
• Jakub Vasicek; Dafni Skiadopoulou; Ksenia Kuznetsova et al. (2023). Finding haplotypic signatures in proteins. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Dennis van der Meer; Ida Elken Sønderby; Tobias Kaufmann et al. (2019). Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. (ekstern lenke)
• Maxence S. Macia; Jan Halbritter; Marion Delous et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (ekstern lenke)
• 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. (ekstern lenke)
• Annika Jaitner; Marc Vaudel; Krasimira Tsaneva-Atanasova et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (ekstern lenke)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad et al. (2021). Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. (ekstern lenke)
• Kaya Kvarme Jacobsen; Rune Kleppe; Stefan Johansson 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)
• Pol Solé-Navais; Jonas Bacelis; Øyvind Helgeland et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (ekstern lenke)
• Yunpeng Ding; Eva Ringdal Pedersen; Stefan Johansson 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)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Cristina Sánchez-Mora; Marta Ribases; Josep Antonio Ramos-Quiroga et al. (2010). Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. (ekstern lenke)
• Charalampos Tzoulis; Stefan Johansson; Bjørn Ivar Haukanes 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)
• Michael Berk; Stefan Johansson; Naomi R Wray et al. (2011). Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. (ekstern lenke)
• Ludvig Daae Bjørndal; Elizabeth Claire Corfield; Laurie John Hannigan et al. (2025). Prevalence, Characteristics, and Genetic Architecture of Avoidant/Restrictive Food Intake Phenotypes. (ekstern lenke)
• Anne Blomhoff; M Olsson; Stefan Johansson 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)
• 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. (ekstern lenke)
• Ksenia Lavrichenko; Øyvind Helgeland; Pål Rasmus Njølstad et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (ekstern lenke)
• 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. (ekstern lenke)
• Torunn Fiskerstrand; Najla Arshad; Bjørn Ivar Haukanes et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (ekstern lenke)
• Cristina Sánchez-Mora; Marta Ribases; Miquel Casas 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)
• Triin Laisk; Ana Luiza G. Soares; Teresa Ferreira et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (ekstern lenke)
• Andreas Reif; T. Trang Nguyen; Lena Weissflog et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (ekstern lenke)
• 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. (ekstern lenke)
• Anne Halmøy; Stefan Johansson; Ingeborg Winge et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (ekstern lenke)
• Silje Hjorth Rafaelsen; Stefan Johansson; Helge Ræder et al. (2016). Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. (ekstern lenke)
• 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. (ekstern lenke)
• Catarina Jansson; Helena Nordenstedt; MA Wallander 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)
• Elisabeth Toverud Landaas; Stefan Johansson; Anne Halmøy et al. (2011). Bipolar disorder risk alleles in adult ADHD patients. (ekstern lenke)
• 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. (ekstern lenke)
• Barbara Franke; Alejandro Arias Vasquez; Stefan Johansson 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)
• Kishan Kumar Chudasama; Jonathan Winnay; Stefan Johansson et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (ekstern lenke)
• Barbara Franke; Alejandro Arias Vasquez; Stefan Johansson 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)
• 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. (ekstern lenke)
• Heike Weber; Sarah Kittel-Schneider; Julia Heupel et al. (2015). On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. (ekstern lenke)
• Stefan Johansson; Helene Halleland; Anne Halmøy 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)
• Cristina Sánchez-Mora; Josep Antonio Ramos-Quiroga; Rosa Bosch 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)
• Marta Ribases; Rosa Bosch; Amaia Hervas 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)
• Maribel Aranda-Guillén; Ellen Christine Røyrvik; Sara Fletcher-Sandersjöö et al. (2023). A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. (ekstern lenke)
• Daniel Eriksson; Ellen Christine Røyrvik; Maribel Aranda-Guillen et al. (2021). GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. (ekstern lenke)
• Elisabeth Thoverud Landaas; Stefan Johansson; Kaya Kvarme Jacobsen et al. (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• Stefan Johansson; Benedicte Alexandra Lie; J. A. Todd et al. (2003). Evidence of at least two type 1 diabets susceptiblity genes in the HLA complex distinct from HLADQA1 and-DRB1. (ekstern lenke)
• Nils-Halvdan Morken; Rolv Skjaerven; Jennifer L. Richards et al. (2016). Adverse infant outcomes associated with discordant gestational age estimates. (ekstern lenke)
• Leonie A. Menke; Thatjana Gardeitchik; Peter Hammond et al. (2018). Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. (ekstern lenke)
• Ketil Riddervold Heimdal; Monica Sanchez Guixe; Ingvild Aukrust et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (ekstern lenke)
• Luis Francisco Hernández Sánchez; Bram Burger; Carlos Horro Marcos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (ekstern lenke)
• Dario Brunetti; Janniche Torsvik; Cristina Dallabona et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (ekstern lenke)
• M Melone; M Pellegrino; M Nolano et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.. (ekstern lenke)
• Nhung Trinh; Sina Rostami; Michele Pedroncelli et al. (2026). Prenatal antidepressant use and longitudinal differences in BMI up to 8 years of age in the offspring born to mothers with depression/anxiety in the Norwegian Mother, Father and Child Cohort Study. (ekstern lenke)
• Camiel M. van der Laan; Hill F. Ip; Marijn Schipper et al. (2025). Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes. (ekstern lenke)
• Jørn V. Sagen; Lise Bjørkhaug; Bjørn Ivar Haukanes et al. (2017). The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. (ekstern lenke)
• Stefan Johansson; Bo Kagstrom; Anton Shiriaev et al. (2007). Comparing one-shot and multi-shot methods for solving periodic Riccati equations. (ekstern lenke)
• Monica Dalva; Khadija el Jellas; Solrun Steine 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)
• Jordi Corominas; Marieke Klein; Tetyana Zayats et al. (2018). Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. (ekstern lenke)
• Johannes Jernqvist Gaare; Gonzalo Sanchez Nido; Pawel Szymon Sztromwasser et al. (2018). Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. (ekstern lenke)
• Yasaman Pakdaman; Monica Sanchez Guixe; Rune Kleppe 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)
• Khadija el Jellas; Dag Hoem; Kristin Gjerde Hagen et al. (2017). Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival. (ekstern lenke)
• Anja Ragvin; Karianne Fjeld; F. Ulrich Weiss 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)
• Christopher Flatley; Pol Sole-Navais; Marc Vaudel et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (ekstern lenke)
• C Jansson; H Nordenstedt; MA Wallander et al. (2009). A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. (ekstern lenke)
• Omar Hikmat; Charalampos Tzoulis; Per Knappskog et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (ekstern lenke)
• Yasaman Pakdaman; Siren Berland; Helene J. Bustad 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)
• Tetyana Zayats; Lavinia Athanasiu; Ida Elken Sønderby et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (ekstern lenke)
• Silje Hjorth Rafaelsen; Helge Ræder; Anne Kristine Fagerheim et al. (2013). Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. (ekstern lenke)
• Helge Ræder; Stefan Johansson; Pål I. Holm et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (ekstern lenke)
• Øyvind Helgeland; Marc Vaudel; Pol Sole-Navais et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; Kristian Midthjell et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (ekstern lenke)
• Pol Solé-Navais; Julius Juodakis; Karin Ytterberg et al. (2024). Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. (ekstern lenke)
• Thegna Mavroconstanti; Stefan Johansson; Ingeborg Winge et al. (2013). Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. (ekstern lenke)
• Ng'weina Francis Magitta; Anette Susanne Bøe Wolff; Stefan Johansson et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (ekstern lenke)
• Janniche Torsvik; Stefan Johansson; Anders Johansen et al. (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (ekstern lenke)
• Dinka Smajlagic; Ksenia Lavrichenko; Siren Berland et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (ekstern lenke)
• Duaa I. Olwi; Lena R. Kaisinger; Katherine A. Kentistou et al. (2024). Likely causal effects of insulin resistance and IGF-1 bioaction on childhood and adult adiposity: a Mendelian randomization study. (ekstern lenke)
• Anny Gravdal Svanbring; Xunjun Xiao; Miriam Cnop et al. (2021). The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity. (ekstern lenke)
• Stig Åge Eide; H Ræder; Helge Ræder et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (ekstern lenke)
• Erlend Joramo Brevik; Marjolein M J van Donkelaar; Heike Weber et al. (2016). Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. (ekstern lenke)
• Luis Francisco Hernandez Sanchez; Bram Burger; Rodrigo Alexander Castro Campos et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (ekstern lenke)
• Stefan Johansson; Benedicte Alexandra Lie; A Combon-Thomsen et al. (2003). No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex. (ekstern lenke)
• 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. (ekstern lenke)
• Stefan Johansson; Siren Berland; Gyri Aasland Gradek et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (ekstern lenke)
• Alexey A. Shadrin; Olav Bjerkehagen Smeland; Tetyana Zayats et al. (2017). Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment. (ekstern lenke)
• Amund Holte Berger; Eirik Bratland; Thea Sjøgren 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)
• Mathias Kaas; Sarah Broholt Dinesen; Ole Ahlgreen et al. (2025). A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity. (ekstern lenke)
• Caitlin S. Decina; Robin N. Beaumont; Julius Juodakis et al. (2025). The influence of fetal sex on maternal blood pressure in pregnancy. (ekstern lenke)
• Robin J. Hofmeister; Théo Cavinato; Roya Karimi et al. (2025). Parent-of-origin effects on complex traits in up to 236,781 individuals. (ekstern lenke)
• Charalampos Tzoulis; Pawel Szymon Sztromwasser; Stefan Johansson et al. (2017). PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. (ekstern lenke)
• Craig Myrum; Sudheer Giddaluru; Kaya Kvarme Jacobsen et al. (2015). Common variants in the ARC gene are not associated with cognitive abilities. (ekstern lenke)
• Nicole Maree Warrington; Robin N. Beaumont; Momoko Horikoshi et al. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. (ekstern lenke)
• Stefan Johansson; Benedicte Alexandra Lie; Flemming Pociot et al. (2003). HLA association in type I diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes. (ekstern lenke)
• Bjarte Håvik; Franziska A. Degenhardt; Stefan Johansson et al. (2012). DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. (ekstern lenke)
• Stefan Johansson; Anne Halmøy; Thegna Mavroconstanti 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)
• Cecilie Bredrup; Stefan Johansson; Laurence Bindoff et al. (2015). High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). (ekstern lenke)
• Ge Zhang; Jonas Bacelis; Candice Lengyel et al. (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. (ekstern lenke)
• Kaya Kvarme Jacobsen; Anne Halmøy; Cristina Sánchez-Mora et al. (2013). DISC1 in adult ADHD patients: An association study in two European samples. (ekstern lenke)
• Shannon D'Urso; Gunn-Helen Øiseth Moen; Liang-Dar Hwang 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)
• Xueping Liu; Dorte Helenius; Line Skotte et al. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Stefan Johansson et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (ekstern lenke)
• Silje Hjorth Rafaelsen; Stefan Johansson; Helge Ræder 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)
• Bergithe Eikeland Oftedal; Alexander Hellesen; Martina Moter Erichsen et al. (2015). Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. (ekstern lenke)
• Helene Halleland; Astri Lundervold; Anne Halmøy et al. (2009). Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. (ekstern lenke)
• Bernarda Lozić; Stefan Johansson; Sanja Lovric Kojundzic et al. (2016). Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. (ekstern lenke)
• Haydee Artaza Alvarez; Ksenia Lavrichenko; Anette Susanne Bøe Wolff et al. (2024). Rare copy number variant analysis in case–control studies using snp array data: a scalable and automated data analysis pipeline. (ekstern lenke)
• Jakub Vasicek; Ksenia Kuznetsova; Dafni Skiadopoulou et al. (2024). ProHap enables human proteomic database generation accounting for population diversity. (ekstern lenke)
• Siren Berland; Cecilie Rustad; Mariann Bentsen et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (ekstern lenke)
• Verneri Anttila; Brendan Bulik-Sullivan; Hilary K. Finucane et al. (2018). Analysis of shared heritability in common disorders of the brain. (ekstern lenke)
• Joe Rainger; Davut Pehlivan; Stefan Johansson et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (ekstern lenke)
• Katherine A. Kentistou; Lena R. Kaisinger; Stasa Stankovic et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (ekstern lenke)
• Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (ekstern lenke)
• Jason Flannick; G Thorleifsson; N Beer et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (ekstern lenke)
• Marieke Klein; Stefanie Berger; Martine Hoogman et al. (2016). Meta-analysis of the DRD5 VNTR in persistent ADHD. (ekstern lenke)
• Ketil Joachim Ødegaard; Tifany A. Greenwood; Stefan Johansson et al. (2010). A genome-wide association study of bipolar disorder and comorbid migraine. (ekstern lenke)
• Ranveig Seim Brekke; Anny Gravdal Svanbring; Khadija el Jellas 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)
• Anette Susanne Bøe Wolff; Bergithe Eikeland Oftedal; Stefan Johansson et al. (2008). AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. (ekstern lenke)
• Mauricio Arcos-Burgos; Mahim Jain; Maria T. Acosta et al. (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. (ekstern lenke)
• Kaya Kvarme Jacobsen; Caroline M. Nievergelt; Tetyana Zayats et al. (2015). Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. (ekstern lenke)
• Amund Holte Berger; Bergithe Eikeland Oftedal; Anette Susanne Bøe Wolff et al. (2025). High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys. (ekstern lenke)

Leserbrev

• Jeffrey Mckinney; Stefan Johansson; Anne Halmøy et al. (2008). A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. (ekstern lenke)
• Johannes Jernqvist Gaare; Gonzalo Sanchez Nido; Pawel Szymon Sztromwasser et al. (2018). No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. (ekstern lenke)

Konferanseabstrakt

• B Cormand; M Ribasés; JA Ramos-Quiroga et al. (2009). The dopamine system in adult ADHD - findings from the IMpACT study. (ekstern lenke)
• 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. (ekstern lenke)
• Jan Haavik; Stefan Johansson; Per Morten Knappskog et al. (2009). From synthesis to uptake - serotonergic genes in adult ADHD. (ekstern lenke)
• B Franke; Stefan Johansson; B Cormand et al. (2009). From childhood to adulthood - testing the IMAGE candidates in IMpACT. (ekstern lenke)
• Ketil Joachim Ødegaard; Stefan Johansson; Tifany A. Greenwood et al. (2010). A genetic study of bipolar disorder and co-morbid migraine. (ekstern lenke)
• Janniche Torsvik; Bente Berg Johansson; Stefan Johansson et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Amanda Hughes; Tim Morris; Ziada Ayorech et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (ekstern lenke)
• Mette Vesterhus; Stefan Johansson; Helge Ræder et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (ekstern lenke)

Konferanseposter

• Yasaman Pakdaman; Eirik Austad; Elsa Denker et al. (2019). Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. (ekstern lenke)
• Stefan Johansson; Anne Halmøy; Helene Halleland et al. (2006). Genetic Analysis of Candidate Genes in Adult ADHD Patients from Norway. (ekstern lenke)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad 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)
• Miguel Angel Juarez Garzon; Ksenia Kuznetsova; Divya Sri Priyanka Tallapragada et al. (2024). Pediatric Diabetes Clustering: Phenotypic and polygenic risk analysis. (ekstern lenke)
• Yasaman Pakdaman; Elsa Denker; Eirik Austad 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)

Rettelse i tidsskrift

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

Vitenskapelig litteraturgjennomgang

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

Konferanseforedrag

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

Forelesning

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

Masteroppgave

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

Medieintervju

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

Se en fullstendig oversikt over publikasjoner i NVA.

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:

1. Helgeland Ø, Vaudel M, Sole-Navais P, Flatley C, Juodakis J, Bacelis J, Koløen IL, Knudsen GP, Johansson BB, Magnus P, Kjennerud TR, Juliusson PB, Stoltenberg C, Holmen OL, Andreassen OA, Jacobsson B, Njølstad PR, Johansson S: Characterization of the genetic architecture of infant and early childhood body mass index. Nat Metabol 2022 Mar;4(3):344-358. Times Cited: 36. IF 20.8. 

2.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.Times Cited: 56. IF 14.9 

3. Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grutzmann R, Mayerle J, Mossner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Ferec C, Witt H, Lerch MM, Njolstad PR, Johansson S, Molven A: A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nat Genet 47:518-522, 2015. Times Cited: 134. IF 31.6 (The 2^nd of two NatGen publication from our group on complex CEL gene mutations that we discovered and characterized). 

4. 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.. Times Cited: 359. IF 31.6. (Landmark paper disentangling fetal and maternal genetic effect on birth weight).

5. 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. Times Cited:48.  

6. R. N. Beaumont*, Flatley C (n=82 authors), Johansson S*, Freathy R. M*, Feenstra B*. Njølstad P.R.*. Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nat Genet, 55: 1807-1893, 2023. Times Cited: 16. IF 31.6.

7. Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, (n=74 authors), Freathy RM, Johansson S, Zhang G, Jacobsson B. Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet. 2023 Apr;55(4):559-567. Times Cited: 32. IF 31.6 

8. Kentistou K, Kaisinger L, Stankovic S, Vaudel M (n>200 authors), Johansson S, Day FR, Perry JRB, Ong KK. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nat Genet. 2024 Jul;56(7):1397-1411. Times Cited 12, IF=31.6 . (Collaboration between Cambridge and Bergen – here we contribute with BMI in childhood to shed light on the role of adiposity for early menarche).

9. 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. Times Cited: 54. IF=4.0 (From novel disease gene identification using NGS, to molecular mechanistic studies to clinical characterization. We have continued to reveal the mechanisms behind this disease, resulting in 3 add publications including a CRISPER STUB1 ko zebrafish disease model.)

10. 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.Times Cited: 47. IF 14.9 (The first GWAS of Addison´s disease).

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