Kenneth Ivan Aston

The paper functionally characterizes human PRDM9 alleles to show that despite sequence diversity, most alleles function similarly, while rare variants show extreme DNA binding effects.

The paper identifies a 2:1 male offspring ratio in a human family, suggesting potential segregation distortion caused by a distorting Y-chromosome.

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.

This study identifies AXDND1's role in balancing spermatogonial commitment and sperm tail formation in mice and humans, showing its necessity for fertility.

The paper introduces HISTA, an interactive scRNA-seq reference for the human testis, and demonstrates its use in analyzing lncRNA regulation and NANOS gene function in spermatogenesis.

The paper examines age-related changes in the human sperm methylome, finding that donor variability outweighs age effects, but age-dependent changes exist and vary by genomic location.

The paper assesses DNA methylation variability in gene promoters across tissues and disease states, finding tissue-specific patterns that can differentiate healthy from diseased tissue and predict fertility outcomes in male infertility.

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

This study uses single-cell RNA-seq to analyze age-related changes in human testis and finds that dysregulation correlates with BMI in older men.

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.

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

This study shows paternal cigarette smoke exposure alters sperm DNA methylation and offspring gene expression, with oxidative stress mediating these heritable changes.

This paper develops a DNA methylation age prediction model for human sperm, achieving high accuracy and repeatability, and identifies smoking as a subtle factor affecting sperm aging.