Claudio Bruno

A comprehensive framework for the interpretation of TTN missense variants

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.

The paper investigates amino acid metabolism in spinal muscular atrophy, finding dysregulated D- and L-amino acid levels linked to glutamatergic dysfunction and showing therapeutic potential with D-serine.

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

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