Corrine Kolka Welt

Regulation of murine follicle-stimulating hormone β subunit transcription by newly identified enhancers

The paper identifies four activin-sensitive enhancers upstream of the murine Fshb gene, showing differential regulation by SMAD2/3 and FOXL2 in gonadotropes.

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits

This study identifies pathogenic variants in insulin resistance genes in PCOS patients using whole-exome sequencing, highlighting IR as a central pathway in PCOS.

Heterozygous Eif4nif1 Stop Gain Mice Replicate the Primary Ovarian Insufficiency Phenotype in Women

This paper creates a mouse model with a stop-gain mutation in Eif4enif1 that replicates primary ovarian insufficiency in women, showing reduced follicle numbers and altered mRNA expression.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

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.

Mode of inheritance needs to be accounted for in interpreting genotype-phenotype links in monogenic disorders

The paper re-analyzes genetic variants in POI patients, finding that the claimed diagnostic yield is overestimated due to incorrect assumptions about inheritance modes.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

Large-Scale Genome-Wide Meta Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria.

This study performs a large-scale genome-wide meta-analysis of PCOS cases and identifies genetic loci associated with PCOS and related traits, showing shared genetic architecture across different diagnostic criteria.