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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: bruzzone c. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: bruzzone c. Eur J Hum Genet. 2021 Feb;29(2):250-261. doi: 10.1038/s41431-020-00723-7. Epub 2020 Sep 14. Eur J Hum Genet. 2021. PMID: 32929237 Free PMC article.
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: bruzzone c. Eur J Hum Genet. 2021 Feb;29(2):362. doi: 10.1038/s41431-020-00733-5. Eur J Hum Genet. 2021. PMID: 32968214 Free PMC article. No abstract available.
Cross-Validation of Metabolic Phenotypes in SARS-CoV-2 Infected Subpopulations Using Targeted Liquid Chromatography-Mass Spectrometry (LC-MS).
Whiley L, Lawler NG, Zeng AX, Lee A, Chin ST, Bizkarguenaga M, Bruzzone C, Embade N, Wist J, Holmes E, Millet O, Nicholson JK, Gray N. Whiley L, et al. Among authors: bruzzone c. J Proteome Res. 2024 Apr 5;23(4):1313-1327. doi: 10.1021/acs.jproteome.3c00797. Epub 2024 Mar 14. J Proteome Res. 2024. PMID: 38484742 Free PMC article.
Metabolic Features of Increased Gut Permeability, Inflammation, and Altered Energy Metabolism Distinguish Agricultural Workers at Risk for Mesoamerican Nephropathy.
Raines NH, Leone DA, O'Callaghan-Gordo C, Ramirez-Rubio O, Amador JJ, Lopez Pilarte D, Delgado IS, Leibler JH, Embade N, Gil-Redondo R, Bruzzone C, Bizkarguenaga M, Scammell MK, Parikh SM, Millet O, Brooks DR, Friedman DJ. Raines NH, et al. Among authors: bruzzone c. Metabolites. 2023 Feb 22;13(3):325. doi: 10.3390/metabo13030325. Metabolites. 2023. PMID: 36984765 Free PMC article.
38 results