B. Cogné

A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome

A robust RNA biomarker for T-loop ReNU syndrome for use in therapeutic development is defined, and a general framework for portable biomarker discovery in spliceopathies is illustrated.

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.