Raquel Rabionet

TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.

This study identifies rare variants in VNN2 associated with improved stroke recovery using exome sequencing and structural analysis.

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.

The paper introduces BATI, a Bayesian rare variant association test that outperforms existing methods in detecting rare variants associated with complex diseases, especially when genetic variation explains little phenotypic variance.