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Page 1
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: seggewiss j. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Mitochondrial DNA mutations in Medulloblastoma.
Funke VLE, Sandmann S, Melcher V, Seggewiss J, Horvath J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Rutkowski S, Mynarek M, Varghese J, Sträter R, Rust S, Seelhöfer A, Reunert J, Fiedler B, Schüller U, Marquardt T, Kerl K. Funke VLE, et al. Among authors: seggewiss j. Acta Neuropathol Commun. 2023 Jul 27;11(1):124. doi: 10.1186/s40478-023-01602-0. Acta Neuropathol Commun. 2023. PMID: 37501103 Free PMC article.
Group-specific cellular metabolism in Medulloblastoma.
Funke VLE, Walter C, Melcher V, Wei L, Sandmann S, Hotfilder M, Varghese J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Mynarek M, Rutkowski S, Seggewiss J, Jeising D, de Faria FW, Marquardt T, Albert TK, Schüller U, Kerl K. Funke VLE, et al. Among authors: seggewiss j. J Transl Med. 2023 Jun 5;21(1):363. doi: 10.1186/s12967-023-04211-6. J Transl Med. 2023. PMID: 37277823 Free PMC article.
Genetic Architecture of Azoospermia-Time to Advance the Standard of Care.
Wyrwoll MJ, Köckerling N, Vockel M, Dicke AK, Rotte N, Pohl E, Emich J, Wöste M, Ruckert C, Wabschke R, Seggewiss J, Ledig S, Tewes AC, Stratis Y, Cremers JF, Wistuba J, Krallmann C, Kliesch S, Röpke A, Stallmeyer B, Friedrich C, Tüttelmann F. Wyrwoll MJ, et al. Among authors: seggewiss j. Eur Urol. 2023 May;83(5):452-462. doi: 10.1016/j.eururo.2022.05.011. Epub 2022 Jun 8. Eur Urol. 2023. PMID: 35690514
30 results