Macarena Cabrera‐Serrano

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

The paper creates a database of genetic variants specific to Iberian Roma individuals to aid in genetic diagnosis and understand evolutionary adaptations.

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.