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).

Selected invited presentations to peer-reviewed, internationally established conferences and/or international advanced schools. Nordic Conf of future health invited talk (Trondheim 2024), Inst of Metabolic Science, Univ Cambridge(UK) Seminar series (2024),CBS invited lecture, University of Exeter, UK (2023), CHOP Invited Lecture Series - Philadelphia, USA (2021), Malmø Diabetes meeting (2018), the American Society of Human Genetics Meeting - San Diego, USA (2014), the American Society of Human Genetics Meeting - Boston, USA (2013), The American Diabetes Association Meeting, 70th session - Orlando USA (2011), The Genomic Disorders Meeting - Wellcome Trust, Sanger Center, Cambridge, UK (2011).  

Parent Of Origin story in Nature

 

 Dagsrevyen 2022: https://www.nrk.no/vestland/no-veit-forskarane-ved-uib-kvifor-alvin-er-ein-tjukk-baby-1.15901393; 

VG 2019 (https://www.vg.no/nyheter/innenriks/i/qLVxqO/uib-studie-slaar-bein-under-teori-barnets-gener-bestemmer-diabetes-risiko); 

https://sciencenews.dk/da/forskere-finder-genet-der-goer-babyer-runde-og-sunde

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

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

 

Academic article

• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Jens Kristoffer Hertel; Stefan Johansson; H Ræder et al. (2008). Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). (external link)
• 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. (external link)
• Ksenia Lavrichenko; Stefan Johansson; Inge Jonassen (2021). Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. (external link)
• Henrik Underthun Irgens; Karianne Fjeld; Bente Berg Johansson et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (external link)
• 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. (external link)
• Jason Flannick; Nicola L. Beer; Alexander G. Bick et al. (2013). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. (external link)
• Karianne Fjeld; Sebastian Beer; Marianne Johnstone et al. (2016). Length of variable numbers of tandem repeats in the carboxyl ester lipase (CEL) gene may confer susceptibility to alcoholic liver cirrhosis but not alcoholic chronic pancreatitis. (external link)
• Karianne Fjeld; Emmanuelle Masson; Jin-Huan Lin et al. (2020). Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Lise Bj. Gundersen; Stefan Johansson; Helge Ræder et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Eirini Marouli; Mariaelisa Graff; Carolina Medina-Gomez et al. (2017). Rare and low-frequency coding variants alter human adult height. (external link)
• 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. (external link)
• 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. (external link)
• 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). (external link)
• Tetyana Zayats; Kaya Kvarme Jacobsen; Rune Kleppe et al. (2016). Exome chip analyses in adult attention deficit hyperactivity disorder. (external link)
• Charalompos Tzoulis; Tetyana Zayats; Per Knappskog et al. (2015). HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. (external link)
• Helge Raeder; Helge Ræder; Lise Bjorkhaug et al. (2006). A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes - Studies of HNF4A variants in the Norwegian MODY registry. (external link)
• Janniche Torsvik; Bente Berg Johansson; Monica Dalva et al. (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Serge Eifes; Kishan Kumar Chudasama; Janne Molnes et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (external link)
• Ellen Verhoef; Andrea G. Allegrini; Philip R. Jansen et al. (2024). Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits. (external link)
• Paula Rovira; Ditte Demontis; Cristina Sánchez-Mora et al. (2020). Shared genetic background between children and adults with attention deficit/hyperactivity disorder. (external link)
• 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. (external link)
• Karianne Fjeld; Frank Ulrich Weiss; Denise Lasher et al. (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Carlos E. Rodriguez et al. (2017). GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. (external link)
• 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. (external link)
• Haydee Artaza; Daniel Eriksson; Ksenia Lavrichenko et al. (2024). Rare copy number variation in autoimmune Addison’s disease. (external link)
• Pol Solé-Navais; Christopher Flatley; Valgerdur Steinthorsdottir et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (external link)
• Jakub Vasicek; Dafni Skiadopoulou; Ksenia Kuznetsova et al. (2023). Finding haplotypic signatures in proteins. (external link)
• Hana Lango Allen; Stefan Johansson; Sian Ellard et al. (2010). Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. (external link)
• Stefan Johansson; Helge Ræder; Stig Åge Eide et al. (2007). Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians. (external link)
• 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. (external link)
• Maxence S. Macia; Jan Halbritter; Marion Delous et al. (2017). Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. (external link)
• Jonathan P. Bradfield; Suzanne Vogelezang; Janine F. Felix et al. (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. (external link)
• Annika Jaitner; Marc Vaudel; Krasimira Tsaneva-Atanasova et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (external link)
• 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. (external link)
• 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. (external link)
• Pol Solé-Navais; Jonas Bacelis; Øyvind Helgeland et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (external link)
• 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. (external link)
• Øyvind Helgeland; Marc Vaudel; Petur Benedikt Juliusson et al. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. (external link)
• TO Kilpelainen; L Qi; S. Brage et al. (2011). Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. (external link)
• Khadija el Jellas; Petra Dušátková; Ingfrid S. Haldorsen et al. (2022). Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. (external link)
• 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. (external link)
• 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. (external link)
• Michael Berk; Stefan Johansson; Naomi R Wray et al. (2011). Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. (external link)
• Ludvig Daae Bjørndal; Elizabeth Claire Corfield; Laurie John Hannigan et al. (2025). Prevalence, Characteristics, and Genetic Architecture of Avoidant/Restrictive Food Intake Phenotypes. (external link)
• 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. (external link)
• Pernille Svalastoga; Alba Kaci; Janne Molnes et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (external link)
• Ksenia Lavrichenko; Øyvind Helgeland; Pål Rasmus Njølstad et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (external link)
• Hill F. Ip; Camiel M. van der Laan; Eva M. L. Krapohl et al. (2021). Genetic association study of childhood aggression across raters, instruments, and age. (external link)
• Torunn Fiskerstrand; Najla Arshad; Bjørn Ivar Haukanes et al. (2012). Familial diarrhea syndrome caused by an activating GUCY2C mutation. (external link)
• 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. (external link)
• Triin Laisk; Ana Luiza G. Soares; Teresa Ferreira et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (external link)
• Andreas Reif; T. Trang Nguyen; Lena Weissflog et al. (2011). DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. (external link)
• Zhen Qiao; Jie Zheng; Øyvind Helgeland et al. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. (external link)
• Anne Halmøy; Stefan Johansson; Ingeborg Winge et al. (2010). Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. (external link)
• 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. (external link)
• Robin N. Beaumont; Christopher Flatley; Marc Vaudel et al. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. (external link)
• 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. (external link)
• Elisabeth Toverud Landaas; Stefan Johansson; Anne Halmøy et al. (2011). Bipolar disorder risk alleles in adult ADHD patients. (external link)
• Ashley Budu-Aggrey; Anna Kilanowski; Maria K. Sobczyk et al. (2023). European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. (external link)
• 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. (external link)
• Kishan Kumar Chudasama; Jonathan Winnay; Stefan Johansson et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (external link)
• 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. (external link)
• Bente Berg Johansson; Henrik Underthun Irgens; Janne Molnes et al. (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. (external link)
• Heike Weber; Sarah Kittel-Schneider; Julia Heupel et al. (2015). On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Elisabeth Thoverud Landaas; Stefan Johansson; Kaya Kvarme Jacobsen et al. (2010). An international multicenter association study of the serotonin transporter gene in persistent ADHD. (external link)
• Ng’weina Francis Magitta; AS Bøe; S Johansson et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Jens Kristoffer Hertel; Stefan Johansson; Helge Ræder et al. (2011). Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (external link)
• 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. (external link)
• Nils-Halvdan Morken; Rolv Skjaerven; Jennifer L. Richards et al. (2016). Adverse infant outcomes associated with discordant gestational age estimates. (external link)
• 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. (external link)
• Ketil Riddervold Heimdal; Monica Sanchez Guixe; Ingvild Aukrust et al. (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. (external link)
• Luis Francisco Hernández Sánchez; Bram Burger; Carlos Horro Marcos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (external link)
• Dario Brunetti; Janniche Torsvik; Cristina Dallabona et al. (2016). Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. (external link)
• M Melone; M Pellegrino; M Nolano et al. (2014). Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Stefan Johansson; Bo Kagstrom; Anton Shiriaev et al. (2007). Comparing one-shot and multi-shot methods for solving periodic Riccati equations. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Christopher Flatley; Pol Sole-Navais; Marc Vaudel et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (external link)
• C Jansson; H Nordenstedt; MA Wallander et al. (2009). A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. (external link)
• Omar Hikmat; Charalampos Tzoulis; Per Knappskog et al. (2016). ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. (external link)
• 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. (external link)
• Tetyana Zayats; Lavinia Athanasiu; Ida Elken Sønderby et al. (2015). Genome-wide analysis of attention deficit hyperactivity disorder in Norway. (external link)
• 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. (external link)
• Helge Ræder; Stefan Johansson; Pål I. Holm et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Øyvind Helgeland; Marc Vaudel; Pol Sole-Navais et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (external link)
• Jens Kristoffer Hertel; Stefan Johansson; Kristian Midthjell et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (external link)
• Pol Solé-Navais; Julius Juodakis; Karin Ytterberg et al. (2024). Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Stig Åge Eide; H Ræder; Helge Ræder et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (external link)
• Erlend Joramo Brevik; Marjolein M J van Donkelaar; Heike Weber et al. (2016). Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. (external link)
• Luis Francisco Hernandez Sanchez; Bram Burger; Rodrigo Alexander Castro Campos et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (external link)
• 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. (external link)
• Berit Skretting Solberg; Liv Grimstvedt Kvalvik; Johanne Telnes Instanes et al. (2023). Maternal Fiber Intake During Pregnancy and Development of Attention-Deficit/Hyperactivity Disorder Symptoms Across Childhood: The Norwegian Mother, Father, and Child Cohort Study. (external link)
• Stefan Johansson; Siren Berland; Gyri Aasland Gradek et al. (2014). Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• Caitlin S. Decina; Robin N. Beaumont; Julius Juodakis et al. (2025). The influence of fetal sex on maternal blood pressure in pregnancy. (external link)
• Robin J. Hofmeister; Théo Cavinato; Roya Karimi et al. (2025). Parent-of-origin effects on complex traits in up to 236,781 individuals. (external link)
• 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. (external link)
• Craig Myrum; Sudheer Giddaluru; Kaya Kvarme Jacobsen et al. (2015). Common variants in the ARC gene are not associated with cognitive abilities. (external link)
• 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. (external link)
• 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. (external link)
• Bjarte Håvik; Franziska A. Degenhardt; Stefan Johansson et al. (2012). DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. (external link)
• 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. (external link)
• 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). (external link)
• 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. (external link)
• Kaya Kvarme Jacobsen; Anne Halmøy; Cristina Sánchez-Mora et al. (2013). DISC1 in adult ADHD patients: An association study in two European samples. (external link)
• 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). (external link)
• 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. (external link)
• Mette Vesterhus; Helge Ræder; Stefan Johansson et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (external link)
• 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. (external link)
• 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. (external link)
• Helene Halleland; Astri Lundervold; Anne Halmøy et al. (2009). Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. (external link)
• Bernarda Lozić; Stefan Johansson; Sanja Lovric Kojundzic et al. (2016). Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. (external link)
• 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. (external link)
• Jakub Vasicek; Ksenia Kuznetsova; Dafni Skiadopoulou et al. (2024). ProHap enables human proteomic database generation accounting for population diversity. (external link)
• Siren Berland; Cecilie Rustad; Mariann Bentsen et al. (2021). Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features. (external link)
• Verneri Anttila; Brendan Bulik-Sullivan; Hilary K. Finucane et al. (2018). Analysis of shared heritability in common disorders of the brain. (external link)
• Joe Rainger; Davut Pehlivan; Stefan Johansson et al. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. (external link)
• Katherine A. Kentistou; Lena R. Kaisinger; Stasa Stankovic et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (external link)
• Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis et al. (2013). MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. (external link)
• Jason Flannick; G Thorleifsson; N Beer et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (external link)
• Marieke Klein; Stefanie Berger; Martine Hoogman et al. (2016). Meta-analysis of the DRD5 VNTR in persistent ADHD. (external link)
• Ketil Joachim Ødegaard; Tifany A. Greenwood; Stefan Johansson et al. (2010). A genome-wide association study of bipolar disorder and comorbid migraine. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)
• 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. (external link)

Letter to the editor

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

Conference abstract

• B Cormand; M Ribasés; JA Ramos-Quiroga et al. (2009). The dopamine system in adult ADHD - findings from the IMpACT study. (external link)
• Stefan Johansson; Jens Kristoffer Hertel; Kristian Midthjell et al. (2008). The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. (external link)
• Jan Haavik; Stefan Johansson; Per Morten Knappskog et al. (2009). From synthesis to uptake - serotonergic genes in adult ADHD. (external link)
• B Franke; Stefan Johansson; B Cormand et al. (2009). From childhood to adulthood - testing the IMAGE candidates in IMpACT. (external link)
• Ketil Joachim Ødegaard; Stefan Johansson; Tifany A. Greenwood et al. (2010). A genetic study of bipolar disorder and co-morbid migraine. (external link)
• Janniche Torsvik; Bente Berg Johansson; Stefan Johansson et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (external link)
• Karianne Fjeld; Janniche Torsvik; Stefan Johansson et al. (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. (external link)
• HL Allen; Stefan Johansson; S Ellard et al. (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (external link)
• Anders Molven; Janniche Torsvik; Bente Berg Johansson et al. (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Amanda Hughes; Tim Morris; Ziada Ayorech et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (external link)
• Mette Vesterhus; Stefan Johansson; Helge Ræder et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (external link)

Conference poster

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

Journal corrigendum

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

Academic literature review

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

Conference lecture

• Torunn Bjerve Eide; Ann Dorrit Guassora; May-Lill Johansen et al. (2022). The Qualitative Toolbox of General Practice Research. (external link)
• Ziada Ayorech Lennox; Neil Davies; Laurie John Hannigan et al. (2020). Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study. (external link)
• 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. (external link)
• 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. (external link)
• Elizabeth Corfield; Dinka Smajlagic; Siobhan Connoly et al. (2019). Parent-of-origin and maternal effects in attention deficit hyperactivity disorder.. (external link)

Lecture

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

Master’s thesis

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

Media interview

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

See a complete overview of publications in NVA.

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).

https://rdcu.be/cJxow

 

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)