ACTG2 R257C mutation results in proteostasis disruption in human cellular models.
poster presentation
Rimini, 24/09/2025
Italian Society of Human Genetics (SIGU) congress 2025
Conferences and talks
Single-cell RNA sequencing of neurons derived from stem cells from human exfoliated deciduous teeth of patients affected with congenital central hypoventilation syndrome
KeynoteEuropean Society of Human Genetics (ESHG) Congress 2025, Milan, 25/05/2025
Candidate for Early Career Awards 2025
From transcriptomic signatures to therapeutic opportunities: a CMap-based strategy for Congenital Central Hypoventilation Syndrome
Invited talkIRCCS Giannina Gaslini, 13/05/2025
Ciclo seminari della Ricerca
Identification of therapeutic Molecules to Treat respiratory deficits associated with Congenital Central Hypoventilation Syndrome
co-authoronline, 4/03/2025
4th Virtual CCHS Research Conference
Congenital Central Hypoventilation syndrome confirmed the involvement of ROS production and cell cycle deregulation in the pathogenesis of the disease
poster presentationEuropean Society of Human Genetics (ESHG) Congress 2024, Berlin, 3/06/2024
Omics approaches to understand the role of PHOX2B in the pathogenesis of CCHS, envisage possible therapeutic solutions, and investigate the reduced penetrance and variable expressivity
Invited talkIRCCS Giannina Gaslini, 14/02/2023
Site Visit: Selected oral presentation to the genetic section with Nicholas Katsanis
A.I.S.I.C.C. Family meetings
Invited talkFiesole, FI
Repeated invited speaker from 2022 to 2025
