Donatella Milani - Concepedia

Author

Donatella Milani

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico ORCID

Also Known As

Chiara Pantaleoni, D Milani, D. Milani, Domenico Coviello, Donatella Milani, Doriana Milani, E Pesare, Marta De Rinaldis, Martino Montomoli, Milani D

233

Publications

4.6K

Citations

H-Index

118

Concepts

All Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico University of Milan Istituti di Ricovero e Cura a Carattere Scientifico IRCCS Istituto Auxologico Italiano Ospedale Maggiore

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	25	40	2.1K
2	Public Health	10	10	365
3	Health Sciences	2	2	111
4	Arts	1	1	26
5	Engineering	1	1	37

Donatella Milani

Publications

3.4K

Citations

H-Index

Page 1

	Year	Citations
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations Antonio Musio, Angelo Selicorni, Maria Luisa Focarelli, Nature Genetics Mendelian DisorderGenetic DisorderPathologyDegenerative DiseaseX-linked Cornelia	2006	476
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, European Journal of Human Genetics Clinical DisordersGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology	2015	185
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Human Genetics and Genomics Advances	2021	149
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, Clinical Genetics	2007	143
Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms S. Luzzani, Francesco Macchini, A. Valadè, American Journal of Medical Genetics Part A	2003	132
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene Gloria Negri, Donatella Milani, P. Colapietro, Clinical Genetics Rubinstein-taybi SyndromeBrain DevelopmentGeneticsMotor DevelopmentGenetic Epidemiology	2014	86
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire Daniela Rusconi, Gloria Negri, Patrizia Colapietro, Human Genetics Molecular NeuroscienceRubinstein–taybi SyndromeDisease MechanismGenetic DisorderMendelian Disorder	2015	86
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome Paola Castronovo, Cristina Gervasini, Anna Cereda, Chromosome Research Lange SyndromeSurgical PathologyHistopathologyPathologyPremature Chromatid Separation	2009	84
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Michael A. Levy, Raissa Relator, Haley McConkey, Human Mutation Epigenetic ChangeGeneticsDna MethylationGenetic SyndromesSynaptic Signaling	2022	76
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients Angela Bentivegna, Donatella Milani, Cristina Gervasini, BMC Medical Genetics	2006	73

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