Filippo Pinto e Vairo

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies

The cohesin complex, composed of SMC1, SMC3, RAD21, and STAG1/STAG2, is essential for chromosome cohesion, DNA repair, and transcriptional regulation. Pathogenic variants in cohesin components cause cohesinopathies. The classical characteristics of cohesinopathies include develop...

Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a heterogeneous condition with diverse etiologies and clinical presentations. Yet, a consensus of subtypes is lacking in MASLD. Based on latent class analysis of significant MASLD-related clinical variables, we i...