Terhi Piltonen

This study finds no significant transcriptomic differences between PMOS and control iPSC lines, highlighting donor variation as the main source of expression differences.

The paper investigates the effect of the PKHD1L1 splice donor variant rs17368310 on female fertility, showing reduced child count in homozygous carriers across Finnish and Mexican populations.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

This study identifies genetic loci associated with PCOS and shows genetic correlations with inflammation and sex hormones, improving PCOS prediction through polygenic risk scores.

This paper identifies six genetic loci associated with circulating anti-Müllerian hormone levels in pre-menopausal women through a GWAS meta-analysis, including novel signals and biological pathway insights.

The paper develops a targeted gene expression assay to assess endometrial receptivity, finding higher rates of shifted window of implantation in recurrent implantation failure patients.

This paper identifies 19 novel genetic loci associated with pelvic organ prolapse through the largest GWAS to date and presents a polygenic risk score with predictive value for POP risk.

This study identifies three novel low-frequency variants associated with PCOS using a Finnish-Estonian GWAS, highlighting the value of population-specific genetic analysis.

This study identifies five new genetic loci associated with uterine leiomyoma risk and links them to estrogen receptor alpha and genetic stability.