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

Se en full oversikt over publikasjoner i Cristin

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

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

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

Some selected publications:

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