Luca Guglielmi

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

Elena Ambrosini, Federico Sicca, Maria Stefania Brignone et al. · Human Molecular Genetics · 2014 · 83 citations · Full text

Smad4 controls signaling robustness and morphogenesis by differentially contributing to the Nodal and BMP pathways

Luca Guglielmi, Claire Heliot, Sunil Kumar et al. · Nature Communications · 2021 · 48 citations · Full text

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Maria Cristina D’Adamo, Constanze Gallenmà ⁄ ller, Ilenio Servettini et al. · Frontiers in Physiology · 2015 · 45 citations · Full text

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen et al. · Molecular Genetics and Metabolism · 2018 · 33 citations · Full text

Metabolic Syndrome, Cutis Laxa, New Patient +12

An improved Erk biosensor detects oscillatory Erk dynamics driven by mitotic erasure during early development

Scott G. Wilcockson, Luca Guglielmi, Pablo Araguas Rodriguez et al. · Developmental Cell · 2023 · 27 citations · Full text