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Year Number of Results
2012 1
2013 1
2014 1
2015 3
2016 3
2017 1
2018 1
2019 1
2020 2
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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, Lalloo F, Larsen M, Lattimore VL, Lautrup C, Ledig S, Leinert E, Lewis AL, Lim J, Loeffler M, López-Fernández A, Lucci-Cordisco E, Maass N, Manoukian S, Marabelli M, Matricardi L, Meindl A, Michelli RD, Moghadasi S, Moles-Fernández A, Montagna M, Montalban G, Monteiro AN, Montes E, Mori L, Moserle L, Müller CR, Mundhenke C, Naldi N, Nathanson KL, Navarro M, Nevanlinna H, Nichols CB, Niederacher D, Nielsen HR, Ong KR, Pachter N, Palmero EI, Papi L, Pedersen IS, Peissel B, Perez-Segura P, Pfeifer K, Pineda M, Pohl-Rescigno E, Poplawski NK, Porfirio B, Quante AS, Ramser J, Reis RM, Revillion F, Rhiem K, Riboli B, Ritter J, Rivera D, Rofes P, Rump A, Salinas M, Sánchez de Abajo AM, Schmidt G, Schoenwiese U, Seggewiß J, Solanes A, Steinemann D, Stiller M, Stoppa-Lyonnet D, Sullivan KJ, Susman R, Sutter C, Tavtigian SV, Teo SH, Teulé A, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tornero E, Törngren T, Torres-Esquius S, Toss A, Trainer AH, Tucker KM, van Asperen CJ, van Mackelenbergh MT, Varesco L, Vargas-Parra G, Varon R, Vega A, Velasco Á, Vesper AS, Viel A, Vreeswijk MPG, Wagner SA, Waha A, Walker LC, Walters RJ, Wang-Gohrke S, Weber BHF, Weichert W, Wieland K, Wiesmüller L, Witzel I, Wöckel A, Woodward ER, Zachariae S, Zampiga V, Zeder-Göß C; KConFab Investigators, Lázaro C, De Nicolo A, Radice P, Engel C, Schmutzler RK, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: germani a. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.
Germani A, Libi F, Maggi S, Stanzani G, Lombardi A, Pellegrini P, Mattei M, De Marchis L, Amanti C, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. Oncotarget. 2018 Sep 14;9(72):33648-33655. doi: 10.18632/oncotarget.26000. eCollection 2018 Sep 14. Oncotarget. 2018. PMID: 30263092 Free PMC article.
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N. Loconte DC, et al. Among authors: germani a. PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015. PLoS One. 2015. PMID: 25915946 Free PMC article.
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.
Menotta M, Biagiotti S, Bartolini G, Marzia B, Orazi S, Germani A, Chessa L, Magnani M. Menotta M, et al. Among authors: germani a. Cell Biochem Biophys. 2017 Mar;75(1):95-102. doi: 10.1007/s12013-016-0775-0. Epub 2016 Dec 8. Cell Biochem Biophys. 2017. PMID: 27933465
A SMYD3 Small-Molecule Inhibitor Impairing Cancer Cell Growth.
Peserico A, Germani A, Sanese P, Barbosa AJ, Di Virgilio V, Fittipaldi R, Fabini E, Bertucci C, Varchi G, Moyer MP, Caretti G, Del Rio A, Simone C. Peserico A, et al. Among authors: germani a. J Cell Physiol. 2015 Oct;230(10):2447-2460. doi: 10.1002/jcp.24975. J Cell Physiol. 2015. PMID: 25728514 Free PMC article.
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.
Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: germani a. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R. Piane M, et al. Among authors: germani a. J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13. J Neurol Sci. 2016. PMID: 27871447
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: germani a. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.
Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38.
Grossi V, Lucarelli G, Forte G, Peserico A, Matrone A, Germani A, Rutigliano M, Stella A, Bagnulo R, Loconte D, Galleggiante V, Sanguedolce F, Cagiano S, Bufo P, Trabucco S, Maiorano E, Ditonno P, Battaglia M, Resta N, Simone C. Grossi V, et al. Among authors: germani a. Autophagy. 2015 Nov 2;11(11):2102-2113. doi: 10.1080/15548627.2015.1091910. Autophagy. 2015. PMID: 26391455 Free PMC article.
Targeted therapy against chemoresistant colorectal cancers: Inhibition of p38α modulates the effect of cisplatin in vitro and in vivo through the tumor suppressor FoxO3A.
Germani A, Matrone A, Grossi V, Peserico A, Sanese P, Liuzzi M, Palermo R, Murzilli S, Campese AF, Ingravallo G, Canettieri G, Tezil T, Simone C. Germani A, et al. Cancer Lett. 2014 Mar 1;344(1):110-118. doi: 10.1016/j.canlet.2013.10.035. Epub 2013 Nov 9. Cancer Lett. 2014. PMID: 24215867
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