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En Health in Code hemos creado un repositorio de datos genómicos y clínicos para mejorar la precisión de nuestros diagnósticos. Nuestra base de datos única aglutina información relevante de más de más de 400.000 casos y pone al servicio de los pacientes más de 25 años de experiencia en cardiología y oncología.
Nuestras últimas publicaciones científicas
Artículos publicados en 2021
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
Mohammed Majid Akhtar, MD; Massimiliano Lorenzini, MD; Menelaos Pavlou, PhD; Juan Pablo Ochoa, MD; et al.
JAMA Cardiol. Published online May 12, 2021. doi:10.1001/jamacardio.2021.1106, 2021;
A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.
Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina and Lorenzo Monserrat.
npj Genomic Medicine (2021) 6:21; https://doi.org/10.1038/s41525-021-00183-y, 2021;
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.
Roberto Barriales Villa, Juan P. Ochoa, José M. Larrañaga Moreira, Joel Salazar Mendiguchía, Carles Díez López, et al.
Rev Esp Cardiol. 2021;74:208-910.1016/j.rec.2020.09.021, 2021;
Artículos publicados en 2020
Novel Filamin C missense mutation associated with severe restrictive cardiomyopathy overlapping with left ventricular non-compaction.
S Garcia Hernandez, M Ortiz-Genga, K Analia Ramos, J.P Ochoa, A Lamounier, X Fernandez, I Cardenas, D Garcia-Giustiniani, M.N Brogger, M.N Cicerchia, G Fernandez, L Monserrat.
European Heart Journal, Volume 41, Issue Supplement_2, November 2020, ehaa946.3714, https://doi.org/10.1093/ehjci/ehaa946.3714. Published: 25 November 2020., 2020;
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Joel Salazar-Mendiguchía; Roberto Barriales-Villa; Luis R.Lopes; Juan P.Ochoa; Alejandro Rodríguez Vilela; Julián Palomino Doza; José M.Larrañaga Moreira; Marcos Cicerchia; Ivonne Cárdenas Reyes; Diego García-Giustiniani; Noël Brögger; Germán Fernández; Soledad García; Lisi Santiago; Paula Vélez; Martín Ortiz Genga; Perry M.Elliott; Lorenzo Monserrat.
Received 25 May 2020, Revised 6 September 2020, Accepted 29 September 2020, Available online 7 October 2020., 2020;
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Mohammed Majid Akhtar, Massimiliano Lorenzini, Marcos Cicerchia, Juan Pablo Ochoa, Thomas Morris Hey, Maria Sabater Molina, Maria Alejandra Restrepo-Cordoba, et al.
Originally published23 Sep 2020. https://doi.org/10.1161/CIRCHEARTFAILURE.119.006832Circulation: Heart Failure. 2020;13., 2020;
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
Massimiliano Lorenzini, MD, PhD, Gabrielle Norrish, MD, Ella Field, BSc, Juan Pablo Ochoa, MD, et al.
J Am Coll Cardiol. 2020 Aug 4; 76(5): 550–559. doi: 10.1016/j.jacc.2020.06.011., 2020;
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Angela Lopez Sainz MD, PhD, Fernando Dominguez MD, PhD, Luis Rocha Lopes MD, PhD, Juan Pablo Ochoa MD, Roberto Barriales Villa MD, et al.
Journal of the American College of Cardiology, Volume 76, Issue 2, 14 July 2020, Pages 198-200., 2020;
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Joel Salazar-Mendiguchía, Juan Pablo Ochoa, Julian Palomino-Doza, Fernando Domínguez, Carles Díez-López, Mohammed Akhtar, Soraya Ramiro-León, María M Clemente, Antonia Pérez-Cejas, María Robledo, Iria Gómez-Díaz, María Luisa Peña-Peña, Vicente Climent, Francisco Salmerón-Martínez, Celestino Hernández, Pablo E García-Granja, M Victoria Mogollón, Ivonne Cárdenas-Reyes, Marcos Cicerchia, Diego García-Giustiniani, Arsonval Lamounier Jr., et al.
Heart. 2020 Sep; 106(17): 1342–1348. Published online 2020 May 25. doi: 10.1136/heartjnl-2020-316913., 2020;
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Luis R. Lopes, Pedro Barbosa, Mario Torrado, Ellie Quinn, Ana Merino, Juan Pablo Ochoa, Joanna Jager, et al.
Originally published12 May 2020. https://doi.org/10.1161/CIRCGEN.120.002905Circulation: Genomic and Precision Medicine. 2020;13:e002905., 2020;
Prognostic implications of pathogenic truncating variants in the TTN gene.
Maria Luisa Peña Peña, Juan Pablo Ochoa, Roberto Barriales Villa, Marcos Cicerchia, Julián Palomino Doza, Joel Salazar Mendiguchía, Arsonval Lamounier, Juan Pablo Trujillo, Diego Garcia-Giustiniani, Xusto Fernandez, et al.
International Journal of Cardiology, Volume 316, 1 October 2020, Pages 186-187., 2020;
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Juan P. Ochoa, Luis R. Lopes, Marlene Perez-Barbeito, Laura Cazón Varela, Maria M. de la Torre Carpente, Natalia Sonicheva-Paterson, David De Uña Iglesias, Ellen Quinn, et al.
Received: 14 March 2020. Revised: 16 April 2020. Accepted: 17 April 2020. DOI: 10.1111/cge.13759., 2020;
Artículos publicados en 2019
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.
Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP.
Circulation. 2019 Apr 22., 2019;
Artículos publicados en 2018
Differential diagnosis of thickened myocardium: an illustrative MRI review.
Méndez C, Soler R, Rodríguez E, Barriales R, Ochoa JP, Monserrat L.
Insights Imaging. 2018 Oct 9., 2018;
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Juan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, Jens Mogensen, Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Eduardo Villacorta, Marina Martinez-Moreno, Javier Ramos-Maqueda, Esther Zorio, Maria L Peña-Peña, Pablo E García-Granja, José F Rodríguez-Palomares, Ivonne J Cárdenas-Reyes, María M de la Torre-Carpente, Alicia Bautista-Pavés, Mohammed M Akhtar, Marcos N Cicerchia, Raquel Bilbao-Quesada, Maria Victoria Mogollón-Jimenez, Joel Salazar-Mendiguchía, José M Mesa Latorre, Blanca Arnaez, Ivan Olavarri-Miguel, María E Fuentes-Cañamero, Arsonval Lamounier Jr, José María Pérez Ruiz, Vicente Climent-Payá, Inmaculada Pérez-Sanchez, Juan P Trujillo-Quintero, Luis R Lopes, Alfredo Repáraz-Andrade, Rosario Marín-Iglesias, Alejandro Rodriguez-Vilela, María Sandín-Fuentes, Jose A Garrote, Alejandro Cortel-Fuster, Miguel Lopez-Garrido, Ana Fontalba-Romero, Tomás Ripoll-Vera, Isabel Llano-Rivas, Xusto Fernandez-Fernandez, María Isidoro-García, Diego Garcia-Giustiniani, Roberto Barriales-Villa, Martín Ortiz-Genga, Pablo García-Pavía, Perry M Elliott, Juan R Gimeno, Lorenzo Monserrat.
J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001., 2018;
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Fernando Domínguez, Sofía Cuenca, Zofia Bilińska, Rocío Toro, Eric Villard, Roberto Barriales-Villa, Juan Pablo Ochoa, Folkert Asselbergs, Arjan Sammani, Maria Franaszczyk, Mohammed Akhtar, Maria José Coronado-Albi, Diego Rangel-Sousa, Jose F. Rodriguez-Palomares, Juan Jiménez-Jáimez, José Manuel Garcia-Pinilla, Tomás Ripoll-Vera, Maria Victoria Mogollón-Jiménez, Ana Fontalba-Romero, Dolores Garcia-Medina, Julian Palomino-Doza, David de Gonzalo-Calvo, Marcos Cicerchia, Joel Salazar-Mendiguchia, Clara Salas, Sabine Pankuweit, Thomas Morris Hey, Jens Mogensen, Paul J. Barton, Philippe Charron, Perry Elliott, Pablo Garcia-Pavia, for the European Genetic Cardiomyopathies Initiative Investigators, Hans Eiskjær, Roberto Barriales, Xusto Fernández Fernández, et al.
2018 American College of Cardiology Foundation., 2018;
Artículos publicados en 2016
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L.
J Am Coll Cardiol. 2016 Dec 6, 2016;
Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.
Fernández A, Quiroga A, Ochoa, JP, Mysuta, M., Casabé, J. H., Biagetti, M., (…)Galizio, N.
The American Journal of Cardiology 2016, 2016;
Artículos publicados en 2015
Diagnóstico y Tratamiento de la Miocardiopatía Hipertrófica: Comparación de las Guías Europeas y Americanas.
Peña ML, Palomino J, Ochoa JP, Barriales-Vila R.
Cardiocore.2015, 2015;
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