• 1824 Citations
  • 24 h-Index
19942019
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 19 Similar Profiles
Phenotype Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genes Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences

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Research Output 1994 2019

  • 1824 Citations
  • 24 h-Index
  • 89 Article
  • 3 Comment/debate
  • 2 Review article
Intellectual Disability
Chromatin
Epigenomics
Rubinstein-Taybi Syndrome
Developmental Disabilities

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 othersPippucci, 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
Mosaicism
Blood
Phenotype
Interphase
Fluorescence In Situ Hybridization

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 06 Biological Sciences 0604 Genetics

Bestetti, I., Sironi, A., Catusi, I., Mariani, M., Giardino, D., Manoukian, S., Milani, D., Larizza, L., Castronovo, C. & Finelli, P., Sep 19 2018, In : Molecular Cytogenetics. 11, 1, 53.

Research output: Contribution to journalReview article

Mosaicism
Biological Science Disciplines
Blood
Phenotype
Interphase