Ginevra Zanni
19PUBLICATIONS
124CO-AUTHORS
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Publications (19)
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|Oct 11, 2024
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.Fulvio D'Abrusco, Valentina Serpieri, Cecilia Maria Taccagni
|Feb 27, 2024
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu
|Jun 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.Katie L Ayers, Stefanie Eggers, Ben N Rollo
|Jun 09, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.Katie L Ayers, Stefanie Eggers, Ben N Rollo
|Oct 07, 2022
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity.Francesca Vallese, Lorenzo Maso, Flavia Giamogante
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Frequent Collaborators
6 joint publications
Enrico Bertini
3 joint publications
Enza Maria Valente
2 joint publications
Nicole A Siddall
2 joint publications
Alicia Oshlack
2 joint publications
Lydie Burglen
2 joint publications
Liang Zhao
2 joint publications
Cheng Huang
2 joint publications
Katie L Ayers
2 joint publications
Ralf B Schittenhelm
2 joint publications
Josephine Bowles
