Francesca Pantaleoni
5PUBLICATIONS
41CO-AUTHORS
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Publications (5)
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|Apr 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.Manuela Priolo, Erika Zara, Francesca Clementina Radio
|Nov 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.Giulia Fasano, Valentina Muto, Francesca Clementina Radio
|Oct 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.Julia Brinkmann, Christina Lissewski, Valentina Pinna
|Aug 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.Christina Lissewski, Valérie Chune, Francesca Pantaleoni
|Oct 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.Michael T Lam, Simona Coppola, Oliver H F Krumbach
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Frequent Collaborators
5 joint publications
Marco Tartaglia
3 joint publications
Francesca Clementina Radio
2 joint publications
Yoann Vial
2 joint publications
Simona Coppola
2 joint publications
Erika Zara
2 joint publications
Julia Brinkmann
2 joint publications
Martin Zenker
2 joint publications
Alessandro De Luca
2 joint publications
Hélène Cave
2 joint publications
Christina Lissewski
