Charles Coutton

This study uses patient-derived vascularized skin organoids to show that SSc fibroblasts drive microvascular dysfunction through secretome-induced fibrotic responses and crosstalk with endothelial cells.

This study uses in vivo mRNA electroporation to restore sperm motility in ARMC2-deficient mice, demonstrating a potential treatment for male infertility.

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

The paper identifies ZMYND12 as a gene associated with male infertility and flagellum function through genetic and functional studies in humans and Trypanosoma brucei.

This study identifies bi-allelic CCDC146 mutations as a cause of non-syndromic male infertility in humans and mice, showing its role in sperm flagellum structure and microtubule organization.

This paper evaluates exome sequencing as an alternative to chromosomal microarray for detecting copy number variants in rare disorders, showing improved diagnostic yield in prospective cases.

The paper investigates oligogenic inheritance of sperm abnormalities in mice, finding that increasing numbers of heterozygous mutations worsen sperm morphology and motility.

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.