Marie‐Line Jacquemont

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.

This paper compares long-read sequencing strategies to resolve complex genotypes at FSHD-associated loci, showing that structural variants arise from intrachromosomal recombination and require high-resolution methods for accurate detection.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

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