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Ganapathi M, Argyriou L, Martinez-Azorin F, Morlot S, Yigit G, Lee TM, Auber B, von Gise A, Petrey DS, Thiele H, Cyganek L, Sabater-Molina M, Ahimaz P, Cabezas-Herrera J, Sorli-Garcia M, Zibat A, Siegelin MD, Burfeind P, Buchovecky CM, Hasenfuss G, Honig B, Li Y, Iglesias AD, Wollnik B. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum Genet. 2020 Nov;139(11):1443-1454. doi: 10.1007/s00439-020-02188-6. Epub 2020 Jun 8. PubMed PMID: 32514796; PubMed Central PMCID: PMC7519902.
AÑO: 2020; IF: 4.132
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32514796
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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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Akhtar MM, Lorenzini M, Cicerchia M, Ochoa JP, Hey TM, Sabater Molina M, Restrepo-Cordoba MA, Dal Ferro M, Stolfo D, Johnson R, Larranaga-Moreira JM, Robles-Mezcua A, Rodriguez-Palomares JF, Casas G, Pena-Pena ML, Lopes LR, Gallego-Delgado M, Franaszczyk M, Laucey G, Rangel-Sousa D, Basurte M, Palomino-Doza J, Villacorta E, Bilinska Z, Limeres Freire J, Garcia Pinilla JM, Barriales-Villa R, Fatkin D, Sinagra G, Garcia-Pavia P, Gimeno JR, Mogensen J, Monserrat L, Elliott PM. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene. Circ Heart Fail. 2020 Oct;13(10):e006832. doi: 10.1161/CIRCHEARTFAILURE.119.006832. Epub 2020 Sep 23. PubMed PMID: 32964742.
AÑO: 2020; IF: 8.79
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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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