Donatella Milani

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index4.6kcitations233works3.92yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(60), Genomics and Rare Diseases(45), Genetics and Neurodevelopmental Disorders(39), Genetic Syndromes and Imprinting(30), Congenital limb and hand anomalies(26)

Publications227 total

Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study
Seizure·2026Open Access
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Genetics in Medicine·2026Open Access
Abdominal ultrasound screening for abdominal manifestations of neurofibromatosis type 1 in the pediatric population: A case series
Global Pediatrics·2025Open Access
ReNU Syndrome due to a de novo RNU4-2 Variant as a Novel Genetic Cause of Proteinuria
Kidney Medicine·2025Open Access
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center
Clinical Genetics·2025Open Access
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2025Open Access
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes
Neurology Genetics·2025· 1 citedOpen Access
Genetic and Metabolic Diseases: To Split or to Lump?
Preprints.org·2025Open Access
RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry
2025Open Access
A Further Characterisation of the Neuropsychological Profile, Social Perception, and Academic Skills in Sotos Syndrome
Journal of Intellectual Disability Research·2025Open Access
Endocrine involvement in a wide cohort of children and adults affected by 22q11.2 Deletion Syndrome
Endocrine Abstracts·2025
First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases
Clinical Genetics·2025· 3 citedOpen Access
Author response for "First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases"
2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Human Genetics·2025· 4 citedOpen Access
The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2025Open Access
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed
Genes·2025Open Access
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
Orphanet Journal of Rare Diseases·2024· 4 citedOpen Access
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations
Genes·2024Open Access
Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
2024Open Access
A long way to syndromic short stature
˜The œItalian Journal of Pediatrics/Italian journal of pediatrics·2024· 1 citedOpen Access
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Frequent Co-authors

Angelo Selicorni(21), Cristina Gervasini(18), Lidia Larizza(12), Silvia Maitz(8), Susanna Esposito(8), Silvia Russo(6), Maria Francesca Bedeschi(6), Giovanni Battista Ferrero(5), Elisa Biamino(5), Maria Piccione(5), Gloria Negri(5), Anna Cereda(5), Chiara Pantaleoni(5), Margherita Silengo(4), Claudia Ciaccio(4), Giuseppe Merla(4), Paolo Prontera(4), Gioacchino Scarano(4), Paola Francesca Ajmone(4), Silvia Spena(4)