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Towards a European consensus for reporting incidental findings during clinical NGS testing.
Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN. Hehir-Kwa JY, et al. Among authors: capoluongo e. Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3. Eur J Hum Genet. 2015. PMID: 26036857 Free PMC article.
A new founder BRCA1 haplotype identified in the Puglia region is associated with a specific age-related cancer onset in three unrelated families.
Capoluongo E, De Matteis E, Cucinotto I, Ronzino G, Santonocito C, Tornesello A, De Giorgio MR, Lucci Cordisco E, Minucci A, Genuardi M. Capoluongo E, et al. Clin Chem Lab Med. 2020 May 12;59(3):e95-e98. doi: 10.1515/cclm-2020-0389. Print 2021 Feb 23. Clin Chem Lab Med. 2020. PMID: 32396136 No abstract available.
A preliminary Quality Control (QC) for next generation sequencing (NGS) library evaluation turns out to be a very useful tool for a rapid detection of BRCA1/2 deleterious mutations.
Concolino P, Costella A, Minucci A, Scaglione GL, Santonocito C, Salutari V, Scambia G, Zuppi C, Capoluongo E. Concolino P, et al. Among authors: capoluongo e. Clin Chim Acta. 2014 Nov 1;437:72-7. doi: 10.1016/j.cca.2014.06.026. Epub 2014 Jul 5. Clin Chim Acta. 2014. PMID: 25007954
Gene symbol: CYP21A2. Disease: Adrenal hyperplasia.
Capoluongo E, Concolino P, Carrozza C, Santonocito C, Zuppi C. Capoluongo E, et al. Hum Genet. 2008 Jun;123(5):550. Hum Genet. 2008. PMID: 20960642 No abstract available.
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.
Minucci A, Scambia G, Santonocito C, Concolino P, Canu G, Mignone F, Saggese I, Guarino D, Costella A, Molinario R, De Bonis M, Ferrandina G, Petrillo M, Scaglione GL, Capoluongo E. Minucci A, et al. Among authors: capoluongo e. Expert Rev Mol Diagn. 2015;15(10):1383-403. doi: 10.1586/14737159.2015.1081059. Epub 2015 Aug 26. Expert Rev Mol Diagn. 2015. PMID: 26306726 Review.
288 results