M Chiara Manzini
14PUBLICATIONS
33CO-AUTHORS
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Publications (14)
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|Jan 14, 2026
Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy.Kyle P Flannery, Shorbon Mowla, Namarata Battula
|Jul 16, 2025
Interactome Analysis of the CC2D1A Scaffold Reveals Novel Neuronal Interactions and a Postsynaptic Role.Abigail T Heller, Aniket Bhattacharya, Haorong Li
|May 27, 2024
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.Kyle P Flannery, Sylvia Safwat, Eli Matsell
|Apr 23, 2024
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.Aniket Bhattacharya, Paola Parlanti, Luca Cavallo
|Feb 26, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.Daniel G Calame, Jovi Huixin Wong, Puravi Panda
|Jan 31, 2024
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Sylvia Safwat, Kyle P Flannery, Ahmed A El Beheiry
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Frequent Collaborators
1 joint publications
Daniel G Calame
1 joint publications
James R Lupski
1 joint publications
Long Nam Nguyen
1 joint publications
Maria Chahrour
1 joint publications
Brian J O'Roak
1 joint publications
Robin J Kleiman
1 joint publications
Faranak Vahid-Ansari
1 joint publications
Kenji F Tanaka
1 joint publications
René Hen
1 joint publications
Sean D Geddes
