Donatella Milani

27PUBLICATIONS
111CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Respiratory diseasesDevelopmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (27)

|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 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Camilla Lucca, Erica Rosina, Lidia Pezzani

|Jan 25, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.

Elisabetta Prada, Giulia Bruna Marchetti, Denise Pires Marafon

|Jun 27, 2024
The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta

Pageof 5