Riikka K. Arffman

Donor-associated variation outweighs PMOS status in patient-derived iPSC transcriptomes: a genotyped, BMI-adjusted study of 14 lines

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

PKHD1L1 affects fertility in women

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.

Circulating anti-Müllerian hormone levels in pre-menopausal women: novel genetic insights from a GWAS meta-analysis

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.

Targeted gene expression profiling for accurate endometrial receptivity testing

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.

Advancing our understanding of genetic risk factors and potential personalized strategies in pelvic organ prolapse: largest GWAS to date reveals 19 novel associated loci

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.

Leveraging Northern European population history; novel low frequency variants for polycystic ovary syndrome

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