Institut de Recerca Sant Joan de Déu

Genome-wide analysis of social behaviour across social domains, reporters and developmental stages: a meta-regression approach

Abstract Social behaviour is a heritable trait linked to well-being and mental health, yet it varies across social context, including social domains, informants and development, which may shape its underlying genomic architecture. Here, we conducted a genome-wide meta-regression...

Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome

BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...