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Hall CL, Gurha P, Sabater-Molina M, Asimaki A, Futema M, Lovering RC, Suarez MP, Aguilera B, Molina P, Zorio E, Coarfa C, Robertson MJ, Cheedipudi SM, Ng KE, Delaney P, Hernandez JP, Pastor F, Gimeno JR, McKenna WJ, Marian AJ, Syrris P. RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. Int J Cardiol. 2020 Mar 1;302:124-130. doi: 10.1016/j.ijcard.2019.12.002. Epub 2019 Dec 6. PubMed PMID: 31843279; PubMed Central PMCID: PMC6940594.
AÑO: 2020; IF: 4.164
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31843279
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Hall CL, Akhtar MM, Sabater-Molina M, Futema M, Asimaki A, Protonotarios A, Dalageorgou C, Pittman AM, Suarez MP, Aguilera B, Molina P, Zorio E, Hernandez JP, Pastor F, Gimeno JR, Syrris P, McKenna WJ. Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype. Int J Cardiol. 2020 May 15;307:101-108. doi: 10.1016/j.ijcard.2019.09.048. Epub 2019 Oct 8. PubMed PMID: 31627847.
AÑO: 2020; IF: 4.164
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Sabater-Molina M, Navarro-Penalver M, Munoz-Esparza C, Esteban-Gil A, Santos-Mateo JJ, Gimeno JR. Genetic Factors Involved in Cardiomyopathies and in Cancer. J Clin Med. 2020 Jun 2;9(6):1702. doi: 10.3390/jcm9061702. PubMed PMID: 32498335; PubMed Central PMCID: PMC7356401.
AÑO: 2020; IF: 4.241
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Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Skoric-Milosavljevic D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bezieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuno CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Morner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kaab S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V; Nantes Referral Center for inherited cardiac arrhythmia; Behr ER, Barc J, Bezzina CR. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. PubMed PMID: 32893267; PubMed Central PMCID: PMC7790744.
AÑO: 2021; IF: 8.864
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Perez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmuller H, Beltran S; RD-Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30. Erratum In: J Mol Diagn. 2023 May;25(5):311. PubMed PMID: 32619640; PubMed Central PMCID: PMC7477492.
AÑO: 2020; IF: 5.568
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