Pål R. Njølstad

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.

The paper describes the MoBaPsychGen pipeline for quality controlling and imputing genotyping data from the MoBa cohort, identifying extensive family relationships across 207,569 individuals.

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

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.

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

This study identifies IRX3 as a regulator of sumoylation that controls adipogenesis and osteogenesis through epigenetic mechanisms, linking the FTO locus to obesity.

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

The paper introduces a haplotype-based method to estimate maternal and fetal genetic contributions to pregnancy outcomes, finding that gestational duration is mainly influenced by maternal haplotypes while fetal size is influenced by both maternal and paternal haplotypes.

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.

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

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

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.

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

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

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

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.

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

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

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

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.

This study uses genomic analysis of parent-offspring trios to estimate the genetic nurture effect on child anxiety and depression symptoms at age 8, finding significant influence on depression but not anxiety.

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

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

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

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.