Colombo Elisa Adele

Category D - Technical, data processing and scientific-technical Area

Contacts

Workplace

Via di Rudinì, 8 - ASST Santi Paolo e Carlo - Corpo C
20142 MILANO (MI)

University email address
Research

Publications

Publications
  • Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes / E. Di Fede, V. Massa, B. Augello, G. Squeo, E. Scarano, A.M. Perri, R. Fischetto, F.A. Causio, G. Zampino, M. Piccione, E. Curridori, T. Mazza, S. Castellana, L. Larizza, F. Ghelma, E.A. Colombo, M.C. Gandini, M. Castori, G. Merla, D. Milani, C. Gervasini. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - (2020 Jul 08). [Epub ahead of print]
  • Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder / G.M. Squeo, B. Augello, V. Massa, D. Milani, E.A. Colombo, T. Mazza, S. Castellana, M. Piccione, S. Maitz, A. Petracca, P. Prontera, M. Accadia, M. Della Monica, M.C. Di Giacomo, D. Melis, A. Selicorni, S. Giglio, R. Fischetto, E. Di Fede, N. Malerba, M. Russo, M. Castori, C. Gervasini, G. Merla. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - (2020 Mar 13), p. jmedgenet-2019-106724. [Epub ahead of print]
  • Interplay between Genetic Disorders and Gut Microbial Community: Rubinstein-Taybi Syndrome as a Model / G. Bassanini, E. Di Fede, E.A. Colombo, C. Ceccarani, E. Ottaviano, V. Massa, C. Gervasini, E. Borghi. ((Intervento presentato al American Society for Microbiology. convegno ASM Microbe tenutosi a Chicago nel 2020.
  • Phenotypic overlap of Roberts and Baller-Gerold syndromes in two patients with craniosynostosis, limb reductions, and ESCO2 mutations / E.A. Colombo, H. Mutlu-Albayrak, Y. Shafeghati, M. Balasar, J. Piard, D. Gentilini, A.M. Di Blasio, C. Gervasini, L. Van Maldergem, L. Larizza. - In: FRONTIERS IN PEDIATRICS. - ISSN 2296-2360. - 7(2019 May), pp. 210.1-210.7.
  • Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders / G. Negri, P. Magini, D. Milani, M. Crippa, E. Biamino, M. Piccione, S. Sotgiu, C. Perrìa, G. Vitiello, M. Frontali, A. Boni, E. Di Fede, M.C. Gandini, E.A. Colombo, M.J. Bamshad, D.A. Nickerson, J.D. Smith, I. Loddo, P. Finelli, M. Seri, T. Pippucci, L. Larizza, C. Gervasini. - In: HUMAN GENETICS. - ISSN 0340-6717. - 138:3(2019 Mar), pp. 257-269.