Marco Tartaglia

129PUBLICATIONS
649CO-AUTHORS
AutoimmunityEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene mappingCancer genetics
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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.

|May 29, 2026
A matter of switch: how RAC1 variants drive distinct disorders.

|Apr 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

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Frequent Collaborators

30 joint publications

Francesca Clementina Radio

24 joint publications

Marcello Niceta

17 joint publications

Andrea Ciolfi

16 joint publications

Chiara Leoni