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Author Details

Stefan Johansson
2001
141
45
PMIDPaper TitleJournal TitlePublished Year
37503126Understanding the genetic complexity of puberty timing across the allele frequency spectrum.medRxiv2023
37756698Extending protein interaction networks using proteoforms and small molecules.2023
37662288Smoking during pregnancy and its effect on placental weight: A Mendelian randomization study.2023
37909333A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.2023
37798422Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.Diabetologia2023
37798380Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth.Nat Genet2023
37794016European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.Nat Commun2023
37151110A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.2023
35066701Association 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).European Journal of Nutrition2022
37919975Finding haplotypic signatures in proteins.2022
36537070Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study.Elife2022
35315439Characterization of the genetic architecture of infant and early childhood body mass index.Nat Metab2022
34850019Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.Journal of Clinical Endocrinology and Metabolism2022
34526996Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing.Frontiers in Immunology2021
34070858Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.International Journal of Molecular Sciences2021
33459766SeeCiTe: a method to assess CNV calls from SNP arrays using trio data.2021
34330890Genetic association study of childhood aggression across raters, instruments, and age.Transl Psychiatry2021
32649776Neonatal jaundice, attention deficit hyperactivity disorder and familial effects: A Swedish register study with sibling analysis.Acta Paediatrica, International Journal of Paediatrics2021
33291140Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.Human Molecular Genetics2021
32778765Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.European Journal of Human Genetics2021
34630034Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.Frontiers in Molecular Neuroscience2021
34789167Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.BMC Genomics2021
34615670Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.Cold Spring Harbor molecular case studies2021
31493278Introducing M-GCTA a Software Package to Estimate Maternal (or Paternal) Genetic Effects on Offspring Phenotypes.Behav Genet2020
32007358Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis.Pancreatology2020
31665216Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.JAMA Psychiatry2020
32279069Shared genetic background between children and adults with attention deficit/hyperactivity disorder.Neuropsychopharmacology2020
33045005Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits.PLoS Genet2020
33239672The genetic architecture of sporadic and multiple consecutive miscarriage.Nat Commun2020
30116028Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.Mol Psychiatry2020
30705424Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Mol Psychiatry2020
31363752PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping.Gigascience2019
31624239Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.Transl Psychiatry2019
31575865Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth.Nature Communications2019
31160809Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2019
29273807Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30256453Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.Movement Disorders2018
30378284Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC.Brain and Behavior2018
29373637No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.Brain2018
29549330Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29549329Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.Nat Genet2018
29460469Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Am J Med Genet A2018
29413154Novel Loci Associated With Attention-Deficit/Hyperactivity Disorder Are Revealed by Leveraging Polygenic Overlap With Educational Attainment.J Am Acad Child Adolesc Psychiatry2018
29233499The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.Pancreatology2018
28089251Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.Am J Hum Genet2017
28556564Associations between ABO blood groups and pancreatic ductal adenocarcinoma: influence on resection status and survival.Cancer Medicine2017
28934671The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.Diabetes Research and Clinical Practice2017
28396517characterization of six variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.Bioscience Reports2017
27165045PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.Cerebellum2017
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King's College London
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