M Chiara Manzini

15PUBLICATIONS
34CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsGenetically modified animalsNeurology and neuromuscular diseasesAnthropological geneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (15)

|Aug 31, 2026
Protein O-Mannosyltransferases in Development and Disease: Evolutionary and Functional Insights from Model Organisms.

|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

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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