Stefan Johansson

Genetic and behavioural architecture of childhood eating behaviour and links to obesity risk

This study identifies genetic loci associated with childhood eating behaviour and shows they mediate obesity risk through distinct pathways, primarily driven by the child's own genotype.

Systematic and proactive evaluation of AIRE missense variant effects

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

MODY mutations in transcription factors HNF1A and HNF1B affect the production of interferon signaling proteins: evidence at the proteome level

The paper examines proteomic changes caused by MODY mutations in HNF1A and HNF1B using cell line models, finding suppressed energy metabolism and interferon signaling.

FEMA-Long: Modeling unstructured covariances for discovery of time-dependent effects in large-scale longitudinal datasets

FEMA-Long enables efficient modeling of time-dependent effects in longitudinal data, discovering genetic variants with time-dependent effects on infant growth traits.

Multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycaemic traits during pregnancy reveals limited evidence of pregnancy-specific genetic effects

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The Genetic and Proteomic Determinants of Pediatric Stature Development and their link to adult height and Type 2 Diabetes

This study identifies genetic and proteomic factors influencing pediatric stature across life stages and links them to adult height and type 2 diabetes risk.

Parent-of-Origin inference and its role in the genetic architecture of complex traits: evidence from ~265,000 individuals

The paper infers parent-of-origin effects in ~265,000 individuals using a novel method, identifying over 30 novel POEs and confirming known associations, supporting the parental conflict hypothesis.

Nulliparity modifies the maternal genetic effects on gestational duration but not on birth weight

The paper investigates how nulliparity affects maternal genetic effects on gestational duration and birth weight using GWAS data from a large cohort.

High-Resolution Transcriptional Impact of AIRE: Effects of Pathogenic Variants p.Arg257Ter, p.Cys311Tyr, and Polygenic Risk Variant p.Arg471Cys

The paper evaluates the transcriptional impact of three AIRE variants using a cell system, showing different functional effects on gene expression.

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.

Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity

Rare Copy Number Variant analysis in case-control studies using SNP Array Data: a scalable and automated data analysis pipeline

This paper presents a scalable and automated pipeline for analyzing rare copy number variants in case-control studies using SNP array data, enabling efficient CNV detection, quality control, and impact assessment.

Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism

This study identifies a genome-wide association for neonatal jaundice, revealing distinct genetic pathways compared to adult bilirubin metabolism.

Smoking during pregnancy and its effect on placental weight: A Mendelian randomization study

This paper uses Mendelian randomization to estimate the causal effect of smoking during pregnancy on placental weight, finding that continued smoking increases placental weight.

ProHap enables proteomic database generation accounting for population diversity

ProHap constructs protein sequence databases from phased genotypes to account for haplotypic diversity in proteomic searches.

Genome-wide association study of placental weight in 179,025 children and parents reveals distinct and shared genetic influences between placental and fetal growth

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

Extending protein interaction networks using proteoforms and small molecules

This study extends protein interaction networks by incorporating small molecules, protein isoforms, and post-translational modifications to better represent biological systems.

Genetic effects on the timing of parturition and links to fetal birth weight

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

A systematic mapping of the genomic and proteomic variation associated with monogenic diabetes

This paper develops an automated pipeline to collect, unify, and translate genetic variants associated with monogenic diabetes into protein sequences, creating a database for proteomics and structural biology analysis.

Finding Haplotypic Signatures in Proteins

The paper investigates how common genetic haplotypes affect proteomic search results and identifies multi-variant peptides detectable by mass spectrometry.

Characterization of the genetic architecture of BMI in infancy and early childhood reveals age-specific effects and implicates pathways involved in Mendelian obesity

This study identifies 46 BMI loci in children aged 0-8 years, revealing age-specific effects and pathways linked to Mendelian obesity.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

SeeCiTe: a method to assess CNV calls from SNP arrays using trio data

SeeCiTe improves CNV call quality using trio data by classifying calls and visualizing probe-level data, enhancing specificity and sensitivity in biobank-scale studies.

Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.

The paper optimizes run of homozygosity (ROH) calling in parent-offspring trios to study the effect of autozygosity on delivery timing, finding three maternal loci associated with reduced time-to-spontaneous delivery.

Shared genetic background between children and adults with attention deficit/hyperactivity disorder

This study identifies nine new genetic loci associated with ADHD and shows shared genetic architecture between childhood and adult ADHD.

Genome-wide association study reveals a dynamic role of common genetic variation in infant and early childhood growth

This study identifies five BMI-associated loci across 12 time points in children, highlighting transient effects of common genetic variation in the leptin signaling pathway during infancy.

PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping

PathwayMatcher maps omics data to pathway networks considering protein isoforms and modifications, enabling more precise pathway analysis.

The genetic architecture of sporadic and recurrent miscarriage

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 are associated with gestational duration

This study identifies a fetal genome-wide association signal near pro-inflammatory cytokine genes on 2q13 linked to gestational duration and preterm/postterm birth.

A genetic investigation of sex bias in the prevalence of attention deficit hyperactivity disorder

This study investigates genetic mechanisms underlying sex bias in ADHD prevalence using genome-wide data and finds no mean polygenic burden difference across sexes but increased risk in female siblings and comorbid conditions.