Elin Grundberg

The paper expands the human genomic imprinting map using long-read sequencing and GWAS integration, revealing new disease-associated loci and maternal/paternal imprinting patterns.

This study quantifies polygenic liability in rare disease probands and finds associations between rare disease phenotypes and polygenic scores, supporting complex trait influences on Mendelian variant interpretation.

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

The paper identifies differentially methylated regions in children after liver transplant that are associated with rejection, highlighting immune-related pathways and potential therapeutic targets.

This study investigates sex-dependent molecular and cellular changes in mouse lungs exposed to hyperoxia, identifying distinct progenitor and reparative responses in males and females.

The paper presents diagnostic analyses of 960 pediatric rare disease families using genomic sequencing and machine learning, finding higher diagnostic rates with long-read sequencing and highlighting challenges in variant interpretation.

The paper analyzes DNA methylation changes in nasal samples from infants with respiratory viral infections, identifying virus-specific differentially methylated regions and their association with immune responses.

This paper uses Mendelian Randomization to show that higher circulating sclerostin levels causally reduce bone mineral density and increase fracture risk.

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.