19982020

Research output per year

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

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Research Output

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

GEN-COVID Multicenter Study, 2020, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access
  • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

    Genomics England Research Consortium, Jan 1 2020, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journalArticle

    Open Access
  • A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

    Pinelli, M., Terrone, G., Troglio, F., Squeo, G. M., Cappuccio, G., Imperati, F., Pignataro, P., Genesio, R., Nitch, L., Del Giudice, E., Merla, G., Testa, G. & Brunetti-Pierri, N., Jun 1 2020, In : Clinical Genetics. 97, 6, p. 940-942 3 p.

    Research output: Contribution to journalLetter

    Open Access

    Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

    Squeo, G. M., Augello, B., Massa, V., Milani, D., Colombo, E. A., Mazza, T., Castellana, S., Piccione, M., Maitz, S., Petracca, A., Prontera, P., Accadia, M., Della Monica, M., Di Giacomo, M. C., Melis, D., Selicorni, A., Giglio, S., Fischetto, R., Di Fede, E., Malerba, N. & 4 others, Russo, M., Castori, M., Gervasini, C. & Merla, G., Jan 1 2020, (Accepted/In press) In : Journal of Medical Genetics. jmedgenet-2019-106724.

    Research output: Contribution to journalArticle

  • DNA methylation in the diagnosis of monogenic diseases

    Cerrato, F., Sparago, A., Ariani, F., Brugnoletti, F., Calzari, L., Coppedè, F., De Luca, A., Gervasini, C., Giardina, E., Gurrieri, F., Nigro, C. L., Merla, G., Miozzo, M., Russo, S., Sangiorgi, E., Sirchia, S. M., Squeo, G. M., Tabano, S., Tabolacci, E., Torrente, I. & 3 others, Genuardi, M., Neri, G. & Riccio, A., Apr 2020, In : Genes. 11, 4, 355.

    Research output: Contribution to journalReview article

    Open Access