Maarja Lepamets

ORCID: 0000-0002-4619-3229 · 2 papers in corpus
observational 2024
Genome medicine ·doi:10.1186/s13073-023-01265-5

BACKGROUND: Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described. METHODS: Assessing four modes of…

meta-analysis 2023
Nature genetics ·doi:10.1038/s41588-023-01323-z

Endometriosis is a common condition associated with debilitating pelvic pain and infertility. A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genom…