Pia Østergaard

Human Developmental Cell Atlas integrates ~4.6 million cells/nuclei from 4-22 post-conception weeks into 454 refined cell types and maps 114 spatial niches across 6PCW whole-embryo sections.

This study meta-analyzes lipoedema cohorts from the UK and Spain with UK Biobank data, identifying overlapping susceptibility loci and rare SNPs associated with the disorder.

The paper identifies and characterizes novel PIEZO1 variants associated with GLD, showing they impair mechanosensitivity and demonstrating small-molecule rescue of channel function.

This study uses a computational framework to analyze genetic data from 77,539 genomes, identifying 21 novel genetic associations with 269 rare diseases.

This study conducts a GWAS on a UK lipoedema cohort, identifying genetic loci associated with the disease, including those related to lipoma formation and hormone biosynthesis.