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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
2021 2
2022 4
2023 4
2024 0

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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, K… See abstract for full author list ➔ 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.
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mistrulli R, Micolonghi C, Follesa F, Fabiani M, Pagannone E, D'Amati G, Giordano C, Caroselli S, Savio C, Germani A, Pizzuti A, Visco V, Petrucci S, Rubattu S, Piane M, Autore C. Mistrulli R, et al. Among authors: germani a. Mol Genet Metab Rep. 2023 Aug 22;37:101000. doi: 10.1016/j.ymgmr.2023.101000. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662494 Free PMC article.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: germani a. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
From Survey Results to a Decision-Making Matrix for Strategic Planning in Healthcare: The Case of Clinical Pathways.
Bianco L, Raffa S, Fornelli P, Mancini R, Gabriele A, Medici F, Battista C, Greco S, Croce G, Germani A, Petrucci S, Anibaldi P, Bianco V, Ronchetti M, Banchieri G, Napoli C, Piane M. Bianco L, et al. Among authors: germani a. Int J Environ Res Public Health. 2022 Jun 25;19(13):7806. doi: 10.3390/ijerph19137806. Int J Environ Res Public Health. 2022. PMID: 35805466 Free PMC article.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava F, Micolonghi C, Musumeci MB, Petrucci S, Savio C, Fabiani M, Tini G, Germani A, Libi F, Rossi C, Visco V, Pizzuti A, Volpe M, Autore C, Rubattu S, Piane M. Cava F, et al. Among authors: germani a. Front Cardiovasc Med. 2023 Apr 5;10:1112759. doi: 10.3389/fcvm.2023.1112759. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37089884 Free PMC article.
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.
22 results