Margot Julia Wyrwoll

HSP90AA1 variants may contribute to autosomal dominant human male infertility

This study investigates whether HSP90AA1 variants cause autosomal dominant male infertility in humans and finds that while some variants are associated with infertility, their pathogenicity remains uncertain.

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

Stage-specific gene and transcript dynamics in human male germ cells

The paper analyzes transcriptomes of human testis with different germ cell arrest stages to identify gene and transcript dynamics during spermatogenesis.

The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis

The paper identifies a conserved genetic program in male germ cells across species, revealing 161 new spermatogenesis genes and three potential causes of human infertility.

EGR4-dependent decrease of UTF1 is associated with failure to reserve spermatogonial stem cells in infertile men

The paper identifies EGR4-dependent UTF1 downregulation as a factor in reduced reserve spermatogonial stem cells in infertile men, linked to altered chromatin structure.

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships

This paper systematically reviews and validates monogenic causes of human male infertility, identifying 120 genes linked to 104 infertility phenotypes and assessing their clinical validity.

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.

How to identify the best index case in families with hereditary breast and ovarian cancer

This study establishes clinical criteria to identify the best index case for genetic testing in HBOC families, showing higher mutation detection rates when using these criteria.