Rosanna Pescini-Gobert
4PUBLICATIONS
23CO-AUTHORS
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Publications (4)
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|Mar 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.Virginie G Peter, Karolina Kaminska, Cristina Santos
|Feb 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.Lila Allou, Sara Balzano, Andreas Magg
|Dec 31, 2020
Genomic and transcriptomic landscape of conjunctival melanoma.Katarina Cisarova, Marc Folcher, Ikram El Zaoui
|Jul 03, 2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto
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Frequent Collaborators
4 joint publications
Carlo Rivolta
3 joint publications
Virginie G Peter
2 joint publications
Mathieu Quinodoz
2 joint publications
Andrea Superti-Furga
2 joint publications
Katarina Cisarova
1 joint publications
Silvio Alessandro Di Gioia
1 joint publications
Naomichi Matsumoto
1 joint publications
Elizabeth C Engle
1 joint publications
Karolina Kaminska
1 joint publications
Cristina Santos
