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Page 1
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Di Letto P, Budillon A, Rahman SI, Del Vecchio Blanco F, Zanobio M, Scarpato M, Russo M, Onore ME, Piluso G; TUDP Study Group; Nigro V, Scarano G, Torella A. Di Letto P, et al. Am J Med Genet A. 2025 Jul;197(7):e64039. doi: 10.1002/ajmg.a.64039. Epub 2025 Mar 10. Am J Med Genet A. 2025. PMID: 40062685
Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer.
Fabi A, Franco A, Cortesi L, Lucci Cordisco E, Rossi A, Terribile DA, Fiorio E, Paris I, Terrana G, Mocini E, Salutari V, Pavese F, L'Erario FF, Pasquetti D, Palazzo A, Di Guglielmo E, Sanchez AM, D'Archi S, Giontella E, Di Leone A, Cardinali L, Saltarelli R, Scardina L, Ferretti E, Carbognin L, Milella M, Baldari C, Bei R, Carcagni A, Garganese G, Franceschini G, Genuardi M, Giannarelli D, Migliaccio S. Fabi A, et al. JNCI Cancer Spectr. 2025 Oct 13:pkaf097. doi: 10.1093/jncics/pkaf097. Online ahead of print. JNCI Cancer Spectr. 2025. PMID: 41092066
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 Free PMC article.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.
L'Erario FF, Marangi G, Renzi AG, Carapelle M, Doronzio PN, Pasquetti D, Maietta S, Sonnini E, Gazzellone A, Zollino M. L'Erario FF, et al. Genes Dis. 2025 Jan 27;12(6):101546. doi: 10.1016/j.gendis.2025.101546. eCollection 2025 Nov. Genes Dis. 2025. PMID: 40735694 Free PMC article. No abstract available.
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