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Donatella Milani

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(IT)

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237

Papers

4.6K

Citations

36

h-index

101

i10-index

Donatella Milani is an academic researcher from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders. The author has an h-index of 36, co-authored 202 publications.

ORCID: 0000-0002-3087-8514

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genetic Syndromes and Imprinting Congenital limb and hand anomalies

Papers by this author

works

Fragile X syndrome: a review of clinical and molecular diagnoses

2017 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 160 citations

https://doi.org/10.1186/s13052-017-0355-y

Claudia Ciaccio Laura Fontana Donatella Milani Silvia Tabano

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

2021 · Human Genetics and Genomics Advances · 152 citations

https://doi.org/10.1016/j.xhgg.2021.100075

Michael A. Levy Haley McConkey Jennifer Kerkhof Mouna Barat‐Houari

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

2015 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 142 citations

https://doi.org/10.1186/s13052-015-0110-1

Donatella Milani Francesca Manzoni Lidia Pezzani Paola Francesca Ajmone

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

2024 · Genome biology · 54 citations

https://doi.org/10.1186/s13059-023-03113-6

Shantanu Jain Constantina Bakolitsa Steven E. Brenner Predrag Radivojac

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): Preliminary results

2014 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 45 citations

https://doi.org/10.1002/ajmg.b.32224

Paola Francesca Ajmone Claudia Rigamonti Francesca Dall’Ara Federico Monti

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

2016 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 31 citations

https://doi.org/10.1186/s13052-016-0285-0

Gaia Silibello Paola Vizziello Marcello Gallucci Angelo Selicorni

Research topics

topics

Genomic variations and chromosomal abnormalities

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Genetic Syndromes and Imprinting

Congenital limb and hand anomalies

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