Preben Bo Mortensen

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

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study identifies four novel genetic loci associated with multiple psychiatric disorders, implicating fetal neurodevelopment as a key mediator of shared genetic risk.

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

This paper identifies a genome-wide significant risk locus for cannabis use disorder, implicating CHRNA2 and linking it to cognitive performance.

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

The paper describes the methods and recruitment strategies of the Anorexia Nervosa Genetics Initiative (ANGI), which successfully enrolled 13,364 individuals with AN and controls for genetic research.

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

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

The paper associates elevated polygenic autism risk with differential DNA methylation at birth, using a large cohort of infants and integrating genetic and epigenetic data.

The paper investigates the genetic burden of rare protein-truncating variants in ASD and ADHD, finding similar patterns of enrichment.

The paper conducts a genome-wide association study of anxiety and stress-related disorders in the iPSYCH cohort, identifying PDE4B as consistently associated with ASRD and showing genetic overlap with other traits.

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.

The paper introduces the iPSYCH2012 case-cohort sample, a large Danish population-based dataset for studying genetic and environmental factors in severe mental disorders.

The paper reanalyzes mtDNA SNPs associated with schizophrenia in Danish populations, finding significant bi-genomic linkage disequilibrium that may confound disease associations.

The paper analyzes the spatio-temporal distribution and genogeographic affinity of mitochondrial DNA haplogroups in 24,216 Danes, finding increased frequencies of certain haplogroups linked to immigration.

The paper uses polygenic transmission disequilibrium to show common and rare variants act additively in autism risk, with polygenic risk over-transmitted to ASD cases but not unaffected siblings.

The paper identifies genetic links between autism spectrum disorders and typical variation in social behavior and adaptive functioning in the general population.