M
Martin Ortiz-Genga
Researcher at University of A Coruña
Publications - 36
Citations - 1304
Martin Ortiz-Genga is an academic researcher from University of A Coruña. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 11, co-authored 28 publications receiving 839 citations.
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Journal ArticleDOI
Atlas of the clinical genetics of human dilated cardiomyopathy
Jan Haas,Karen S. Frese,Barbara Peil,Wanda Kloos,Andreas Keller,Rouven Nietsch,Zhu Feng,Sabine Müller,Elham Kayvanpour,Britta Vogel,Farbod Sedaghat-Hamedani,Wei Keat Lim,Xiaohong Zhao,Dmitriy Fradkin,Doreen Köhler,Simon Fischer,Jennifer Franke,Sabine Marquart,Ioana Barb,Daniel Tian Li,Ali Amr,Philipp Ehlermann,Derliz Mereles,Tanja Weis,Sarah Hassel,Andreas Kremer,Vanessa King,Emil Wirsz,Emil Wirsz,Richard Isnard,Michel Komajda,Alessandra Serio,Maurizia Grasso,Petros Syrris,Eleanor Wicks,Vincent Plagnol,Luis R. Lopes,Tenna Gadgaard,Hans Eiskjær,Mads E. Jørgensen,Diego García-Giustiniani,Martin Ortiz-Genga,María G. Crespo-Leiro,Rondal H Lekanne Dit Deprez,Imke Christiaans,Ingrid A.W. van Rijsingen,Arthur A.M. Wilde,Anders Waldenström,Martino Bolognesi,Riccardo Bellazzi,Stellan Mörner,Justo Lorenzo Bermejo,Lorenzo Monserrat,Eric Villard,Jens Mogensen,Yigal M. Pinto,Philippe Charron,Perry M. Elliott,Eloisa Arbustini,Hugo A. Katus,Benjamin Meder +60 more
TL;DR: This is to the authors' knowledge, the first study that comprehensively investigated the genetics of DCM in a large-scale cohort and across a broad gene panel of the known DCM genes and underline the high analytical quality and feasibility of Next-Generation Sequencing in clinical genetic diagnostics.
Journal ArticleDOI
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies
Martin Ortiz-Genga,Sofía Cuenca,Matteo Dal Ferro,Esther Zorio,Ricardo Salgado-Aranda,Vicente Climent,Laura Padron-Barthe,Iria Duro-Aguado,Juan Jiménez-Jáimez,Víctor M. Hidalgo-Olivares,Enrique García-Campo,Chiara Lanzillo,M. Paz Suárez-Mier,Hagith Yonath,Sonia Marcos-Alonso,Juan Pablo Ochoa,José L. Santomé,Diego García-Giustiniani,Jorge Rodriguez-Garrido,Fernando Dominguez,Marco Merlo,Julián Palomino,Maria Luisa Peña,Juan Pablo Trujillo,Alicia Martín-Vila,Davide Stolfo,Pilar Molina,Enrique Lara-Pezzi,Francisco E. Calvo-Iglesias,Eyal Nof,Leonardo Calò,Roberto Barriales-Villa,Juan Ramón Gimeno-Blanes,Michael Arad,Pablo García-Pavía,Lorenzo Monserrat +35 more
TL;DR: In this article, the authors demonstrate the association between truncating mutations in the Filamin C (FLNC) gene and the development of high-risk dilated and arrhythmogenic cardiomyopathies.
Journal ArticleDOI
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
Arthur A.M. Wilde,Christopher Semsarian,Manlio F. Márquez,Alireza Sepehri Shamloo,Michael J. Ackerman,Euan A. Ashley,Eduardo Back Sternick,Hector Barajas-Martinez,Elijah R. Behr,Connie R. Bezzina,Jeroen Breckpot,Philippe Charron,Priya S. Chockalingam,Lia Crotti,Michael H. Gollob,Steven A. Lubitz,Naomasa Makita,Seiko Ohno,Martin Ortiz-Genga,Luciana Sacilotto,Eric Schulze-Bahr,Wataru Shimizu,Nona Sotoodehnia,Rafik Tadros,James S. Ware,David S. Winlaw,Elizabeth S. Kaufman,Takeshi Aiba,Andreas Bollmann,Jong Il Choi,Aarti Dalal,Francisco Darrieux,John R. Giudicessi,Mariana Guerchicoff,Kui Hong,Andrew D. Krahn,Ciorsti MacIntyre,Judith A. Mackall,Lluís Mont,Carlo Napolitano,Juan Pablo Ochoa,Petr Peichl,Alexandre C. Pereira,Peter J. Schwartz,Jon Skinner,Christoph Stellbrink,Jacob Tfelt-Hansen,Thomas Deneke +47 more
TL;DR: Kaufman et al. as mentioned in this paper presented an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License (https://creativecommons.org/ licenses/by-nc-nd/4.0/).
Journal ArticleDOI
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,María Luisa Peña-Peña,Pablo Elpidio García-Granja,José Rodríguez-Palomares,Ivonne J. Cárdenas-Reyes,María M. de la Torre-Carpente,Alicia Bautista-Pavés,Mohammed M Akhtar,Marcos Cicerchia,Raquel Bilbao-Quesada,Maria Victoria Mogollón-Jimenez,Joel Salazar-Mendiguchía,José M. Mesa Latorre,Blanca Arnaez,Ivan Olavarri-Miguel,Maria Eugenia Fuentes-Cañamero,Arsonval Lamounier,José María Pérez Ruiz,Vicente Climent-Payá,Inmaculada Pérez-Sánchez,Juan Pablo Trujillo-Quintero,Luis R. Lopes,Alfredo Repáraz-Andrade,Rosario Marín-Iglesias,Alejandro Rodriguez-Vilela,Maria Sandin-Fuentes,José Antonio Garrote,Alejandro Cortel-Fuster,Miguel A. López-Garrido,Ana Fontalba-Romero,Tomás Ripoll-Vera,Isabel Llano-Rivas,Xusto Fernández-Fernández,María Isidoro-García,Diego García-Giustiniani,Roberto Barriales-Villa,Martin Ortiz-Genga,Pablo García-Pavía,Perry M. Elliott,Juan R. Gimeno,Lorenzo Monserrat +49 more
TL;DR: FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases, and the phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts.
Journal ArticleDOI
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Diego García-Giustiniani,Michael Arad,Martin Ortiz-Genga,Roberto Barriales-Villa,Xusto Fernández,Isabel Rodríguez-García,Andrea Mazzanti,Elena Veira,Emilia Maneiro,Paula Rebolo,Ivan Lesende,Laura Cazón,Dov Freimark,Juan Ramón Gimeno-Blanes,Christine E. Seidman,Jonathan G. Seidman,William J. McKenna,Lorenzo Monserrat +17 more
TL;DR: Mutations in the converter region of β myosin heavy chain are generally associated with adverse prognosis although there are differences between mutations.