a public good project by the
Synthesis
Company
of California

© 2026

Donatella Milani | doi.page

0 works0 citations0 h-index

Donatella Milani

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(IT)

Publications by Year

Research Areas

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

Most-Cited Works

→ X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations(2006)476 cited
→ (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome(2015)188 cited
→ Fragile X syndrome: a review of clinical and molecular diagnoses(2017)160 cited
→ Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders(2021)152 cited
→ Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation(2007)144 cited
→ Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management(2015)143 cited
→ Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms

(2003)

133 cited

→ Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome(2015)91 cited

→ Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene(2014)88 cited

→ Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire(2015)87 cited