Stefan Johansson

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Publications in SciGraph latest 50 shown

  • 2018-08-16 Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing in MOLECULAR PSYCHIATRY
  • 2018-05 Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2018-05 Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2018-01 Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity in NATURE GENETICS
  • 2017-04 Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry in DIABETOLOGIA
  • 2017-02 PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema in THE CEREBELLUM
  • 2017-02-01 Rare and low-frequency coding variants alter human adult height in NATURE
  • 2016-10 Exome chip analyses in adult attention deficit hyperactivity disorder in TRANSLATIONAL PSYCHIATRY
  • 2016-07 Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes in NATURE REVIEWS ENDOCRINOLOGY
  • 2015-12 Expanding the toolbox of ADHD genetics. How can we make sense of parent of origin effects in ADHD and related behavioral phenotypes? in BEHAVIORAL AND BRAIN FUNCTIONS
  • 2015-05 A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis in NATURE GENETICS
  • 2014-12 STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-12 Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3mutation; case report and review of the literature in BMC GENETICS
  • 2014-04 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes in NATURE GENETICS
  • 2013-12 MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes in NATURE GENETICS
  • 2012-10 The genetics of attention deficit/hyperactivity disorder in adults, a review in MOLECULAR PSYCHIATRY
  • 2011-12 Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study) in BMC MEDICAL GENETICS
  • 2011-10 DIRAS2 is Associated with Adult ADHD, Related Traits, and Co-Morbid Disorders in NEUROPSYCHOPHARMACOLOGY
  • 2010-02 Multicenter Analysis of the SLC6A3/DAT1 VNTR Haplotype in Persistent ADHD Suggests Differential Involvement of the Gene in Childhood and Persistent ADHD in NEUROPSYCHOPHARMACOLOGY
  • 2010-01 Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes in HUMAN GENETICS
  • 2009-03 A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes in GENES & IMMUNITY
  • 2008-06 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) in DIABETOLOGIA
  • 2008-04 A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder in MOLECULAR PSYCHIATRY
  • 2008-03 AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I in GENES & IMMUNITY
  • 2006-03 Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes in GENES & IMMUNITY
  • 2006-01 Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction in NATURE GENETICS
  • 2003-01 Evidence of at least two type 1 diabetes susceptibility genes in the HLA complex distinct from HLA-DQB1, -DQA1 and –DRB1 in GENES & IMMUNITY
  • 2001-09 The polymorphism in the 3′ untranslated region of IL12B has a negligible effect on the susceptibility to develop type 1 diabetes in Norway in IMMUNOGENETICS
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