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Page 1
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: bassani s. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Abou Jamra R, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Smeland MF, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, McCormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Kievit AJA, Calandrini C, Iseli C, Guex N, Reymond A. Bassani S, et al. Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. Genome Med. 2024. PMID: 38811945 Free PMC article.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Bassani S, van Beelen E, Rossel M, Voisin N, Morgan A, Arribat Y, Chatron N, Chrast J, Cocca M, Delprat B, Faletra F, Giannuzzi G, Guex N, Machavoine R, Pradervand S, Smits JJ, van de Kamp JM, Ziegler A, Amati F, Marlin S, Kremer H, Locher H, Maurice T, Gasparini P, Girotto G, Reymond A. Bassani S, et al. Hum Mol Genet. 2021 Sep 15;30(19):1785-1796. doi: 10.1093/hmg/ddab145. Hum Mol Genet. 2021. PMID: 34059922
New age-related hearing loss candidate genes in humans: an ongoing challenge.
Di Stazio M, Morgan A, Brumat M, Bassani S, Dell'Orco D, Marino V, Garagnani P, Giuliani C, Gasparini P, Girotto G. Di Stazio M, et al. Among authors: bassani s. Gene. 2020 Jun 5;742:144561. doi: 10.1016/j.gene.2020.144561. Epub 2020 Mar 12. Gene. 2020. PMID: 32173538 Free article.
Oncological Feasibility of Limited Neck Dissection in cN0 Supraglottic Laryngeal Cancer.
Bassani S, Papi G, Marani F, Nocini R, Campagnari V, Marchi F, Lionello M, Varago C, Paderno A, Crosetti E, Mattioli F, Serafini E, Fermi M, Rosti A, Petruzzi G, Campo F, Bellini E, Marcuzzo AV, Mineo CA, Mercante G, De Virgilio A, Giordano L, Galli A, Mannelli G, Mazzetti L, Paludetti G, Rossi G, Zeleník K, Ramos DM, Dedivitis RA, Succo G, Tirelli G, Bussi M, Pellini R, Galli J, Spriano G, Monzani D, Peretti G, Bertolin A, Piazza C, Marchioni D, Presutti L, Molteni G. Bassani S, et al. Head Neck. 2025 Jun;47(6):1699-1705. doi: 10.1002/hed.28081. Epub 2025 Jan 23. Head Neck. 2025. PMID: 39846122 Free article.
68 results