Concepedia

Donatella Milani

DM

82

Publications

3.4K

Citations

33

H-Index

2002

Active since

Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(Current)

University of Milan

Istituti di Ricovero e Cura a Carattere Scientifico

IRCCS Istituto Auxologico Italiano

Ospedale Maggiore

Donatella Milani is an author at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2002–2024

82

Publications

82

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli et al. · Nature Genetics · 2006 · 476 citations

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(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 185 citations · Full text

, , +7

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

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of <i>NIPBL</i> mutation

Angelo Selicorni, Silvia Russo, Cristina Gervasini et al. · Clinical Genetics · 2007 · 143 citations

Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms

S. Luzzani, Francesco Macchini, A. Valadè et al. · American Journal of Medical Genetics Part A · 2003 · 132 citations · Full text

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