Alessandra Murgia

7PUBLICATIONS
53CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Foetal development and medicineEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Aug 10, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

|Jan 25, 2025
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Elisa Di Giorgio, Silvia Benavides-Varela, Annamaria Porru

|Jan 08, 2025
Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.

Dragana Protic, Roberta Polli, Elisa Bettella

|Jul 14, 2023
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.

Dragana Protic, Roberta Polli, Ye Hyun Hwang

|Nov 26, 2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis

|May 30, 2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

Federica Cesca, Elisa Bettella, Roberta Polli

Pageof 2

Frequent Collaborators

3 joint publications

Roberta Polli

3 joint publications

Emanuela Leonardi

2 joint publications

Flora Tassone

2 joint publications

Dragana Protic