Marco Tartaglia

129PUBLICATIONS
649CO-AUTHORS
AutoimmunityEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene mappingVision science
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (129)

|Aug 07, 2026
An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

|Jul 15, 2026
SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

|Jul 08, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

|Jun 26, 2026
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Mar 14, 2026
A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles

Pageof 22

Frequent Collaborators

30 joint publications

Francesca Clementina Radio

24 joint publications

Marcello Niceta

17 joint publications

Andrea Ciolfi

16 joint publications

Chiara Leoni