I have 15 years of experience from genetic studies of both common and rare disorders. My research interests centers around trying to understand the genetic underpinnings of a wide range of disorders such as rare highly heritable genetic disorders, diabetes and related traits and ADHD.
I lead the genetics studies in three reserch consortia: KG Jebsen center for Neuropsychiatric Disorders, KG Jebsen Center for Diabetes Research and the Genomics Group at the Dept of Clinical Science and Senter for Medical Genetics and Molecular Medicine.
- 2020. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. European Journal of Human Genetics. 205-215.
- 2020. Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. Pancreatology (Print). 377-384.
- 2019. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 1-13.
- 2019. PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. GigaScience. 1-13.
- 2019. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics. 804-814.
- 2019. Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics. 51-66.
- 2019. Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature Communications. 1-10.
- 2019. Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational Psychiatry. 1-9.
- 2019. Association of copy number variation of the 15q11.2 BP1-BP2 region with cortical and subcortical morphology and cognition. JAMA psychiatry. 11 pages.
- 2019. A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Human Molecular Genetics. 3327-3338.
- 2018. Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders. 1591-1600.
- 2018. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 26-41.
- 2018. Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. Brain and Behavior. 1-12.
- 2018. Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing. Molecular Psychiatry. 11 pages.
- 2018. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. American Journal of Medical Genetics. Part A. 862-876.
- 2018. Analysis of shared heritability in common disorders of the brain. Science. 15 pages.
- 2017. The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Research and Clinical Practice. 142-149.
- 2017. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
- 2017. SLC2A3 single-nucleotide polymorphism and duplication influence cognitive processing and population-specific risk for attention-deficit/hyperactivity disorder. Journal of Child Psychology and Psychiatry. 798-809.
- 2017. Rare and low-frequency coding variants alter human adult height. Nature. 186-190.
- 2017. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 272-275.
- 2017. Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment. Journal of the American Academy of Child and Adolescent Psychiatry. 86-95.
- 2017. Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics. 323-333.
- 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports. 1-12.
- 2017. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE. 1-10.
- 2017. Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
- 2017. Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. Pancreatology (Print). 83-88.
- 2017. Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival. Cancer Medicine. 1531-1540.
- 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. Journal of the American Medical Association (JAMA). 410-419.
- 2016. Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE.
- 2016. Meta-analysis of the DRD5 VNTR in persistent ADHD. European Neuropsychopharmacology. 1527-1532.
- 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. PLOS ONE.
- 2016. Hereditary hypophosphatemia in Norway: A retrospective population-based study of genotypes, phenotypes, and treatment complications. European Journal of Endocrinology. 125-136.
- 2016. Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 733-747.
- 2016. Exome chip analyses in adult attention deficit hyperactivity disorder. Translational Psychiatry. 7 pages.
- 2016. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 176-190.
- 2016. B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris. NMCD. Nutrition Metabolism and Cardiovascular Diseases. 495-501.
- 2016. Adverse infant outcomes associated with discordant gestational age estimates. Paediatric and Perinatal Epidemiology. 541-549.
- 2016. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 1188-1194.
- 2015. On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 445-458.
- 2015. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 973-979.
- 2015. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America.
- 2015. Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Journal of Clinical Endocrinology and Metabolism. E767-E775.
- 2015. Genome-wide analysis of attention deficit hyperactivity disorder in Norway. PLOS ONE. 17 pages.
- 2015. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder . Journal of Affective Disorders. 453-461.
- 2015. Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 423-432.
- 2015. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity. 1185-1196.
- 2015. Common variants in the ARC gene are not associated with cognitive abilities. Brain and Behavior. 8 pages.
- 2015. Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. Neuropsychopharmacology. 915-926.
- 2015. Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 23 pages.
- 2015. A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 518-522.
- 2014. STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases.
- 2014. Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. American Journal of Human Genetics. 915-923.
- 2014. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 357-363.
- 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. BMC Genetics.
- 2014. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. American Journal of Medical Genetics. Part A. 1622-1626.
- 2014. Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 29097-29111.
- 2013. Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. American Journal of Ophthalmology. 946-953.
- 2013. Type 2 diabetes genes : present status and data from Norwegian studies. Norsk Epidemiologi. 9-22.
- 2013. The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (Print). 29-32.
- 2013. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 150-157.
- 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLOS ONE. 5 pages.
- 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 10 pages.
- 2013. Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients. PLOS ONE. 9 pages.
- 2013. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. Journal of Bone and Mineral Research. 1378-1385.
- 2013. DISC1 in adult ADHD patients: An association study in two European samples. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 227-234.
- 2013. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 1380-1385.
- 2013. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
- 2012. Familial diarrhea syndrome caused by an activating GUCY2C mutation. New England Journal of Medicine. 1586-1595.
- 2012. Exome sequencing and genetic testing for MODY. PLOS ONE. 8 pages.
- 2012. DCLK1 variants are associated across schizophrenia and attention deficit/hyperactivity disorder. PLOS ONE. 12 pages.
- 2011. Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Medicine. 14 pages.
- 2011. No association between the serotonin transporter gene polymorphism 5-HTTLPR and cyclothymic temperament as measured by TEMPS-A. Journal of Affective Disorders. 308-312.
- 2011. Glutamate cysteine ligase (GCL) and self reported depression: An association study from the HUNT. Journal of Affective Disorders. 207-213.
- 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. Diabetes. 1637-1644.
- 2011. Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four european populations. American Journal of Medical Genetics. 600-612.
- 2011. Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Medical Genetics. 6 pages.
- 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. Journal of Biological Chemistry. 34593-34605.
- 2011. DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders. Neuropsychopharmacology. 2318-2327.
- 2011. Bipolar disorder risk alleles in adult ADHD patients. Genes, Brain and Behavior. 418-423.
- 2010. Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. Diabetes. 266-271.
- 2010. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics. 55-64.
- 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 410-417.
- 2010. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 656-664.
- 2010. Meta-analysis of brain-derived neurotrophic factor p.Val66Met in adult ADHD in four European populations. American Journal of Medical Genetics. 512-523.
- 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. American Journal of Medical Genetics. 1008-1015.
- 2010. Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Archives of General Psychiatry. 1033-1043.
- 2010. An international multicenter association study of the serotonin transporter gene in persistent ADHD. Genes, Brain and Behavior. 449-458.
- 2010. A genome-wide association study of bipolar disorder and comorbid migraine. Genes, Brain and Behavior. 673-680.
- 2010. A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Molecular Psychiatry. 1053-1066.
- 2009. Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology. 656-664.
- 2009. Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder. Biological Psychiatry. 926-934.
- 2009. Association between Catechol O-methyltransferase (COMT) haplotypes and severity of hyperactivity symptoms in Adults. American Journal of Medical Genetics. 403-410.
- 2009. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 120-124.
- 2009. A Population-Based Study Showing an Association Between Gastroesophageal Reflux Disease and Sleep Problems. Clinical Gastroenterology and Hepatology. 960-965.
- 2008. Severe symptoms of gastro-oesophageal reflux disease are associated with cardovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. Alimentary Pharmacology and Therapeutics. 58-65.
- 2008. Severe symptoms of gastro-oesophageal reflux disease are associated with cardiovascular disease and other gastrointestinal symptoms, but not diabetes: a population-based study. Alimentary Pharmacology and Therapeutics. 58-65.
- 2008. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
- 2008. Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. Diabetes Care. 306-310.
- 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). Diabetologia. 971-977.
- 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. American Journal of Medical Genetics. 1470-1475.
- 2008. AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I. Genes and Immunity. 130-136.
- 2008. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity.
- 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. Diabetes. 3112-3117.
- 2007. Comparing one-shot and multi-shot methods for solving periodic Riccati equations. Elsevier IFAC Publications / IFAC Proceedings series.
- 2006. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
- 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. Genes and Immunity. 130-140.
- 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. Diabetes. 1899-1903.
- 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-2972.
- 2003. No evidence of type 1 diabetes susceptibility genes in the region centromeric of the HLA complex. Human Immunology. 951-959.
- 2003. HLA association in type I diabetes: DPB1 alleles may act as markers of other HLA-complex susceptibility genes. Tissue Antigens. 344-351.
- 2003. Evidence of at least two type 1 diabets susceptiblity genes in the HLA complex distinct from HLADQA1 and-DRB1. Genes and Immunity. 46-53.
- 2020. Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study.
- 2019. Parent-of-origin and maternal effects in attention deficit hyperactivity disorder.
- 2000. Strategies to identify a novel gene, located in the extended HLA class I region, involved in the development of type 1 diabetes.
- 2000. HLA class III associations in type 1 diabetes may be secondary to linkage disequilibrium with a susceptibility gene located telomeric of HLA-B.
- 2008. A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Molecular Psychiatry. 365-367.
- 2016. Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Annals of clinical and translational neurology. 876-883.
- 2014. Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy. . Annals of clinical and translational neurology. 926-932.
- 2018. Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations.
- 2018. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain. e16-e16.
- 2013. Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. S152-S152.
- 2010. A genetic study of bipolar disorder and co-morbid migraine. Bipolar Disorders. 62-62.
- 2009. The dopamine system in adult ADHD - findings from the IMpACT study. European Neuropsychopharmacology. S186-S186.
- 2009. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Journal of Medical Genetics. S26-S26.
- 2009. From synthesis to uptake - serotonergic genes in adult ADHD. European Neuropsychopharmacology. S186-S186.
- 2009. From childhood to adulthood - testing the IMAGE candidates in IMpACT. European Neuropsychopharmacology. S185-S185.
- 2008. The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. Diabetologia. S129-S129.
- 2008. Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. S123-S123.
- 2008. Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. S123-S124.
- 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. S123-S123.
- 2020. Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.
- 2020. Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.
- 2019. Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration.
- 2006. Genetic Analysis of Candidate Genes in Adult ADHD Patients from Norway.
- 2018. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 766-767.
- 2018. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. Pancreatology (Print). 12-19.
- 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. Nature Reviews Endocrinology. 394-406.
- 2015. The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). International Journal of Endocrinology. 9 pages.
- 2015. Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes? Behavioral and Brain Functions.
- 2012. The genetics of attention deficit/hyperactivity disorder in adults, a review. Molecular Psychiatry. 960-987.
- 2011. Maternal genotypes as predictors of offspring mental health; the next frontier of genomic medicine? Future Neurology. 731-743.
- 2010. Fremskritt innen diabetesgenetikk. Tidsskrift for Den norske legeforening. 1145-1149.
Most important publications
1. 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
2. Chudasama KK, Winnay J, Johansson S, Claudi T, Konig R, Haldorsen I, Johansson B, Woo JR, Aarskog D, Sagen JV, Kahn CR, Molven A, Njolstad PR: SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. Am J Hum Genet 93:150-157, 2013
3. Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Havik B, Tonder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM: Familial diarrhea syndrome caused by an activating GUCY2C mutation. N Engl J Med 366:1586-1595, 2012
4. Halmoy A*, Johansson S*, Winge I, McKinney JA, Knappskog PM, Haavik J: Attention-deficit/hyperactivity disorder symptoms in offspring of mothers with impaired serotonin production. Arch Gen Psychiatry 67:1033-1043, 2010
5. McKinney J, Johansson S, Halmoy A, Dramsdahl M, Winge I, Knappskog PM, Haavik J: A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. Mol Psychiatry 13:365-367, 2008
6. Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR: Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nat Genet 38:54-62, 2006
Selected papers from 2003-1015
7. Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA: Defective PITRM1 mitochondrial peptidase is associated with Abeta amyloidotic neurodegeneration. EMBO Mol Med, 2015
8. Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Lovas K, Wolff AS, Abramson J, Husebye ES: Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity 42:1185-1196, 2015
9. Tzoulis C, Zayats T, Knappskog PM, Muller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K: HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci U S A 112:E2268, 2015
10. Zhang G, Bacelis J, Lengyel C, Teramo K, Hallman M, Helgeland O, Johansson S, Myhre R, Sengpiel V, Njolstad PR, Jacobsson B, Muglia L: Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Med 12:e1001865, 2015
11. Flannick J, Thorleifsson G, Beer NL, Jacobs SB, Grarup N, Burtt NP, Mahajan A, Fuchsberger C, Atzmon G, Benediktsson R, Blangero J, Bowden DW, Brandslund I, Brosnan J, Burslem F, Chambers J, Cho YS, Christensen C, Douglas DA, Duggirala R, Dymek Z, Farjoun Y, Fennell T, Fontanillas P, Forsen T, Gabriel S, Glaser B, Gudbjartsson DF, Hanis C, Hansen T, Hreidarsson AB, Hveem K, Ingelsson E, Isomaa B, Johansson S, Jorgensen T, Jorgensen ME, Kathiresan S, Kong A, Kooner J, Kravic J, Laakso M, Lee JY, Lind L, Lindgren CM, Linneberg A, Masson G, Meitinger T, Mohlke KL, Molven A, Morris AP, Potluri S, Rauramaa R, Ribel-Madsen R, Richard AM, Rolph T, Salomaa V, Segre AV, Skarstrand H, Steinthorsdottir V, Stringham HM, Sulem P, Tai ES, Teo YY, Teslovich T, Thorsteinsdottir U, Trimmer JK, Tuomi T, Tuomilehto J, Vaziri-Sani F, Voight BF, Wilson JG, Boehnke M, McCarthy MI, Njolstad PR, Pedersen O, Go TDC, Consortium TDG, Groop L, Cox DR, Stefansson K, Altshuler D: Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet 46:357-363, 2014
12. 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
13. Rainger J*, Pehlivan D*, Johansson S*, Bengani H*, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A, Uk10K, Baylor-Hopkins Center for Mendelian G, Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR: Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet 94:915-923, 2014
14. Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njolstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D: Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet 45:1380-1385, 2013
15. Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R: Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification. J Bone Miner Res 28:1378-1385, 2013
16. Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njolstad PR: Exome sequencing and genetic testing for MODY. PLoS One 7:e38050, 2012
17. Hertel JK*, Johansson S*, Sonestedt E, Jonsson A, Lie RT, Platou CG, Nilsson PM, Rukh G, Midthjell K, Hveem K, Melander O, Groop L, Lyssenko V, Molven A, Orho-Melander M, Njolstad PR: FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes 60:1637-1644, 2011
18. Fiskerstrand T, H'Mida-Ben Brahim D, Johansson S, M'Zahem A, Haukanes BI, Drouot N, Zimmermann J, Cole AJ, Vedeler C, Bredrup C, Assoum M, Tazir M, Klockgether T, Hamri A, Steen VM, Boman H, Bindoff LA, Koenig M, Knappskog PM: Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet 87:410-417, 2010
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Partner (genomic/genetic analysis) in
K.G. Jebsen Centre for Diabetes Research
K.G. Jebsen Centre for Neuropsychiatric Research
FP7 Aggressotype programme (Grant Agreement no. 602805-2)