Sara Di Persio

This study creates a single-nucleus multiomic and spatial atlas of human spermatogenesis, linking gene regulatory networks to infertility-associated genetic variation and disease perturbations.

This study identifies transcriptional states and regulators of spermatogonial stem cell differentiation in marmoset testes across developmental stages.

This study identifies genome-wide DNA methylation changes during human spermatogenesis and their disruption in disturbed spermatogenesis, highlighting hypomethylation at specific regions and transposable elements.

The paper identifies genotype-specific meiotic impairments in infertile men with loss-of-function variants in M1AP or ZZS genes, showing different recombination failures and reproductive outcomes.

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

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

This study shows TRIM71 is essential for germ cell development in mice and links TRIM71 variants to human male infertility.

The paper investigates DNA methylation patterns in sperm from infertile men and finds that somatic DNA contamination and genetic variation, rather than recurrent epimutations, explain observed methylation abnormalities.