Marcella Zollino

24PUBLICATIONS
120CO-AUTHORS
Paediatrics not elsewhere classifiedNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Italian languageDevelopmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (24)

|Aug 27, 2026
A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri

|Apr 26, 2025
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

Federica Francesca L'Erario, Annalisa Gazzellone, Ilaria Contaldo

|Jan 08, 2025
Exploring the Role of CCNF Variants in Italian ALS Patients.

Giulia Bisogni, Amelia Conte, Umberto Costantino

|Oct 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Angela Peron, Felice D'Arco, Kimberly A Aldinger

|Feb 13, 2024
Identification of the DNA methylation signature of Mowat-Wilson syndrome.

Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney

Pageof 4

Frequent Collaborators

4 joint publications

Giuseppe Marangi

3 joint publications

Giuseppe Zampino

2 joint publications

Pietro Chiurazzi

2 joint publications

Chiara Veredice