Kari Stefansson

No ORCID on file · 7 papers in corpus · active 2016-2026

Study types

  • article 2
  • meta-analysis 2
  • other 2

Condition tags

  • endometriosis 6
article 2026
·doi:10.64898/2026.02.25.708037

Abstract Endometriosis is characterized by the presence of endometrium-like tissue outside the uterus. The origin of this ectopic tissue is debated, with leading theories including retrograde menstruation and embryonic remnants. Using somat…

article 2025
BMC medicine ·doi:10.1186/s12916-025-04398-z

BACKGROUND: Endometriosis is a complex condition with a wide range of comorbidities. It is widely underdiagnosed, with a diagnostic delay of 4 to 10 years, potentially leading to worsened disease progression and a higher burden of comorbidi…

2018
·doi:10.1101/245506
meta-analysis 2018
Nature communications ·doi:10.1038/s41467-018-05428-6

Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that as…

other 2017
Scientific reports ·doi:10.1038/s41598-017-10440-9

Genome-wide association (GWA) studies have identified 19 independent common risk loci for endometriosis. Most of the GWA variants are non-coding and the genes responsible for the association signals have not been identified. Herein, we aime…

meta-analysis 2017
Nature communications ·doi:10.1038/ncomms15539

Endometriosis is a heritable hormone-dependent gynecological disorder, associated with severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely unknown. Here we perform a meta-analysis of 11 genome-wide ass…

other 2016
Nature communications ·doi:10.1038/ncomms12350

We conducted a genome-wide association scan (GWAS) of endometriosis using 25.5 million sequence variants detected through whole-genome sequencing (WGS) of 8,453 Icelanders and imputed into 1,840 cases and 129,016 control women, followed by …