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The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.
Clin Chim Acta. 2015 Jun 15;446:221-5. doi: 10.1016/j.cca.2015.03.045. Epub 2015 Apr 17.
Clin Chim Acta. 2015.
PMID: 25896959
Free article.
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Bergougnoux A, D'Argenio V, Sollfrank S, Verneau F, Telese A, Postiglione I, Lackner KJ, Claustres M, Castaldo G, Rossman H, Salvatore F, Raynal C.
Bergougnoux A, et al. Among authors: telese a.
Clin Chem Lab Med. 2018 Jun 27;56(7):1046-1053. doi: 10.1515/cclm-2017-0553.
Clin Chem Lab Med. 2018.
PMID: 29427548
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A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.
Esposito MV, Nunziato M, Starnone F, Telese A, Calabrese A, D'Aiuto G, Pucci P, D'Aiuto M, Baralle F, D'Argenio V, Salvatore F.
Esposito MV, et al. Among authors: telese a.
Int J Mol Sci. 2016 Dec 21;17(12):2145. doi: 10.3390/ijms17122145.
Int J Mol Sci. 2016.
PMID: 28009814
Free PMC article.
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