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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T; Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).. Wilde AAM, et al. Among authors: ochoa jp. Europace. 2022 Sep 1;24(8):1307-1367. doi: 10.1093/europace/euac030. Europace. 2022. PMID: 35373836 Free PMC article. No abstract available.
Natural History of MYH7-Related Dilated Cardiomyopathy.
de Frutos F, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. de Frutos F, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2022 Oct 11;80(15):1447-1461. doi: 10.1016/j.jacc.2022.07.023. Epub 2022 Aug 22. J Am Coll Cardiol. 2022. PMID: 36007715 Free article.
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
Lorenzini M, Norrish G, Field E, Ochoa JP, Cicerchia M, Akhtar MM, Syrris P, Lopes LR, Kaski JP, Elliott PM. Lorenzini M, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011. J Am Coll Cardiol. 2020. PMID: 32731933 Free PMC article.
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.
Wilde AAM, Semsarian C, Márquez MF, Sepehri Shamloo A, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T. Wilde AAM, et al. Among authors: ochoa jp. Heart Rhythm. 2022 Jul;19(7):e1-e60. doi: 10.1016/j.hrthm.2022.03.1225. Epub 2022 Apr 4. Heart Rhythm. 2022. PMID: 35390533 Free article. No abstract available.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Lopes LR, Garcia-Hernández S, Lorenzini M, Futema M, Chumakova O, Zateyshchikov D, Isidoro-Garcia M, Villacorta E, Escobar-Lopez L, Garcia-Pavia P, Bilbao R, Dobarro D, Sandin-Fuentes M, Catalli C, Gener Querol B, Mezcua A, Garcia Pinilla J, Bloch Rasmussen T, Ferreira-Aguar A, Revilla-Martí P, Basurte Elorz MT, Bautista Paves A, Ramon Gimeno J, Figueroa AV, Franco-Gutierrez R, Fuentes-Cañamero ME, Martinez Moreno M, Ortiz-Genga M, Piqueras-Flores J, Analia Ramos K, Rudzitis A, Ruiz-Guerrero L, Stein R, Triguero-Bocharán M, de la Higuera L, Ochoa JP, Abu-Bonsrah D, Kwok CYT, Smith JB, Porrello ER, Akhtar MM, Jager J, Ashworth M, Syrris P, Elliott DA, Monserrat L, Elliott PM. Lopes LR, et al. Among authors: ochoa jp. Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424. Eur Heart J. 2021. PMID: 34263907 Free PMC article.
Lamin cardiomyopathies risk stratification.
Barriales-Villa R, Ochoa JP, Larrañaga-Moreira JM. Barriales-Villa R, et al. Among authors: ochoa jp. Europace. 2021 Mar 8;23(3):487. doi: 10.1093/europace/euaa373. Europace. 2021. PMID: 33347538 No abstract available.
Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy.
Domínguez F, Lalaguna L, Martínez-Martín I, Piqueras-Flores J, Rasmussen TB, Zorio E, Giovinazzo G, Prados B, Ochoa JP, Bornstein B, González-López E, Velázquez-Carreras D, Pricolo MR, Gutiérrez-Agüera F, Bernal JA, Herrero-Galán E, Alegre-Cebollada J, Lara-Pezzi E, García-Pavía P. Domínguez F, et al. Among authors: ochoa jp. Circulation. 2023 May 30;147(22):1711-1713. doi: 10.1161/CIRCULATIONAHA.122.062833. Epub 2023 May 30. Circulation. 2023. PMID: 37253077 No abstract available.
iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
Escribá R, Larrañaga-Moreira JM, Richaud-Patin Y, Pourchet L, Lazis I, Jiménez-Delgado S, Morillas-García A, Ortiz-Genga M, Ochoa JP, Carreras D, Pérez GJ, de la Pompa JL, Brugada R, Monserrat L, Barriales-Villa R, Raya A. Escribá R, et al. Among authors: ochoa jp. Circ Res. 2023 Jul 7;133(2):108-119. doi: 10.1161/CIRCRESAHA.122.321951. Epub 2023 Jun 15. Circ Res. 2023. PMID: 37317833 Free article.
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
Escobar-Lopez L, Ochoa JP, Royuela A, Verdonschot JAJ, Dal Ferro M, Espinosa MA, Sabater-Molina M, Gallego-Delgado M, Larrañaga-Moreira JM, Garcia-Pinilla JM, Basurte-Elorz MT, Rodríguez-Palomares JF, Climent V, Bermudez-Jimenez FJ, Mogollón-Jiménez MV, Lopez J, Peña-Peña ML, Garcia-Alvarez A, López-Abel B, Ripoll-Vera T, Palomino-Doza J, Bayes-Genis A, Brugada R, Idiazabal U, Mirelis JG, Dominguez F, Henkens MTHM, Krapels IPC, Brunner HG, Paldino A, Zaffalon D, Mestroni L, Sinagra G, Heymans SRB, Merlo M, Garcia-Pavia P. Escobar-Lopez L, et al. Among authors: ochoa jp. J Am Coll Cardiol. 2022 Sep 20;80(12):1115-1126. doi: 10.1016/j.jacc.2022.06.040. J Am Coll Cardiol. 2022. PMID: 36109106 Free PMC article.
45 results