Donatella Milani
Milan, Italy
Last Updated: 09/26/2026
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Found 142 publications
STAG1: Bridging the Gap Between Cohesin Complex and Epigenetic Machinery.
Journal: Genes
Published: February 20, 2026
ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria.
Journal: Kidney medicine
Published: February 02, 2026
Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.
Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: October 03, 2025
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.
Journal: Clinical genetics
Published: August 06, 2025
Keeping up the beat of Kleefstra syndrome.
Journal: Italian journal of pediatrics
Published: May 14, 2025
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.
Journal: Italian journal of pediatrics
Published: May 07, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Journal: Neurology. Genetics
Published: March 20, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Journal: Clinical genetics
Published: February 21, 2025
International Clinical Evidence-based Guideline for Kleefstra Syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
Last Updated: 09/26/2026