20182019

Research output per year

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

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Research Output

  • 9 Article
  • 1 Comment/debate
  • 1 Review article

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Zollino, M., Zweier, C., Van Balkom, I. D., Sweetser, D. A., Alaimo, J., Bijlsma, E. K., Cody, J., Elsea, S. H., Giurgea, I., Macchiaiolo, M., Smigiel, R., Thibert, R. L., Benoist, I., Clayton-Smith, J., De Winter, C. F., Deckers, S., Gandhi, A., Huisman, S., Kempink, D., Kruisinga, F. & 12 others, Lamacchia, V., Marangi, G., Menke, L., Mulder, P., Nordgren, A., Renieri, A., Routledge, S., Saunders, C. J., Stembalska, A., Van Balkom, H., Whalen, S. & Hennekam, R. C., Apr 2019, In : Clinical Genetics. 95, 4, p. 462-478 17 p.

Research output: Contribution to journalReview article

  • Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

    Undiagnosed Diseases Network (UDN), Sep 2019, In : Genetics in Medicine. 21, 9, p. 2043-2058 16 p.

    Research output: Contribution to journalArticle

  • Pembrolizumab as first-line treatment for metastatic uveal melanoma

    Rossi, E., Pagliara, M. M., Orteschi, D., Dosa, T., Sammarco, M. G., Caputo, C. G., Petrone, G., Rindi, G., Zollino, M., Blasi, M. A., Cassano, A., Bria, E., Tortora, G. & Schinzari, G., Jul 2019, In : Cancer Immunology and Immunotherapy. 68, 7, p. 1179-1185 7 p.

    Research output: Contribution to journalArticle

  • Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

    The ITALSGEN Consortium & The International ALS Genomics Consortium, Jan 1 2019, In : Annals of Neurology.

    Research output: Contribution to journalArticle

  • A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders

    Marangi, G., Di Giacomo, M. C., Lattante, S., Orteschi, D., Patrizi, S., Doronzio, P. N., Riviello, F. N., Vaisfeld, A., Frangella, S. & Zollino, M., Feb 1 2018, In : American Journal of Medical Genetics, Part A. 176, 2, p. 455-459 5 p.

    Research output: Contribution to journalArticle