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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, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: weichert w. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Endris V, Stenzinger A, Pfarr N, Penzel R, Möbs M, Lenze D, Darb-Esfahani S, Hummel M, Sabine-Merkelbach-Bruse, Jung A, Lehmann U, Kreipe H, Kirchner T, Büttner R, Jochum W, Höfler G, Dietel M, Weichert W, Schirmacher P. Endris V, et al. Among authors: weichert w. Virchows Arch. 2016 Jun;468(6):697-705. doi: 10.1007/s00428-016-1919-8. Epub 2016 Mar 22. Virchows Arch. 2016. PMID: 27003155 Clinical Trial.
Clinical performance of an analytically validated assay in comparison to microarray technology to assess PITX2 DNA-methylation in breast cancer.
Schricker G, Napieralski R, Noske A, Piednoir E, Manner O, Schüren E, Lauber J, Perkins J, Magdolen V, Schmitt M, Ulm K, Weichert W, Kiechle M, Martens JWM, Wilhelm OG. Schricker G, et al. Among authors: weichert w. Sci Rep. 2018 Nov 15;8(1):16861. doi: 10.1038/s41598-018-34919-1. Sci Rep. 2018. PMID: 30442983 Free PMC article.
624 results