Roser Urreizti

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

The paper investigates the subcellular localization of truncated MAGEL2 proteins in Schaaf-Yang syndrome, finding that all truncated variants predominantly localize to the nucleus, with more severe clinical features associated with greater nuclear retention.

This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.