Silvestre Cuinat

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

The paper examines how modifier variants affect clinical outcomes in individuals with primary disease variants, showing context-dependent phenotypic associations and synergistic interactions.

A TALS-like associated RTTN mutation impedes neural rosette formation in human cortical organoids

This study identifies an RTTN mutation that impairs neural rosette formation in human cortical organoids, linking it to microcephaly-like defects.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

The paper examines how assortative mating and parental genetic relatedness influence the pathogenicity of variably expressive variants in neurodevelopmental disorders.