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Fingerprint Dive into the research topics where Donatella Milani is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 43 Similar Profiles
De Lange Syndrome Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences

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Research Output 2001 2019

  • 1366 Citations
  • 19 h-Index
  • 110 Article
  • 3 Review article

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Myopia
Intellectual Disability
Exome
Genes
Phosphoadenosine Phosphosulfate
1 Citation (Scopus)

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Aspromonte, M. C., Bellini, M., Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., Negrin, S., Mammi, I., Milani, D., Peron, A., Sartori, S., Toldo, I., Soli, F., Turolla, L., Stanzial, F., Benedicenti, F. & 4 others, Marino-Buslje, C., Tosatto, S. C. E., Murgia, A. & Leonardi, E., Jan 1 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Autistic Disorder
Intellectual Disability
Comorbidity
Genes
Exome
Spinocerebellar Ataxias
Intellectual Disability
Pediatrics
Mutation
Ataxia

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

Childhood Overgrowth Collaboration, Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Phenotype
Exome
Cryptorchidism
Growth

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, G., Magini, P., Milani, D., Crippa, M., Biamino, E., Piccione, M., Sotgiu, S., Perrìa, C., Vitiello, G., Frontali, M., Boni, A., Di Fede, E., Gandini, M. C., Colombo, E. A., Bamshad, M. J., Nickerson, D. A., Smith, J. D., Loddo, I., Finelli, P., Seri, M. & 3 others, Pippucci, T., Larizza, L. & Gervasini, C., Mar 4 2019, In : Human Genetics. 138, 3, p. 257-269 13 p.

Research output: Contribution to journalArticle

Exome
Epigenomics
Genes
Intellectual Disability
Mutation