Gerarda Cappuccio
26PUBLICATIONS
149CO-AUTHORS
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Publications (26)
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|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio
|Jun 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.Cristina Peduto, Gerarda Cappuccio, Roberta Zeuli
|Jun 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.Camilla Sarli, Liselot van der Laan, Jack Reilly
|Oct 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.Christy W LaFlamme, Cassandra Rastin, Soham Sengupta
|Aug 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Xiangbin Jia, Shujie Zhang, Senwei Tan
|Jul 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.Michael A Levy, Raissa Relator, Haley McConkey
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Frequent Collaborators
20 joint publications
Nicola Brunetti-Pierri
4 joint publications
Michele Pinelli
2 joint publications
Marielle Alders
2 joint publications
Cristina Peduto
2 joint publications
Marco Tartaglia
2 joint publications
John Christodoulou
2 joint publications
Annalaura Torella
1 joint publications
Giuseppe Merla
1 joint publications
Francesca Clementina Radio
1 joint publications
Simranpreet Kaur
