B. Isidor

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Myopathies represent a very heterogeneous group of disease with multiple underlying causes, challenging for molecular genetic diagnosis. Hence, the diagnostic yield is very variable within the different myopathy subtypes. Current diagnostic strategies mainly rely on gene-panel or exome sequencing (ES) approaches,...

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.