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One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M, Starnone F, Giordano S, D'Antonio M, Scognamiglio D, Esposito MV, Correra A, Di Maggio F, D'Argenio V, Scaglione GL, Castaldo G, Salvatore F. Nunziato M, et al. Among authors: d antonio m. Clin Chim Acta. 2024 Jan 1;552:117625. doi: 10.1016/j.cca.2023.117625. Epub 2023 Nov 3. Clin Chim Acta. 2024. PMID: 37923102 Free article.
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F. Esposito G, et al. Among authors: d antonio m. BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0. BMC Med Genet. 2017. PMID: 28143435 Free PMC article.