Genetics, Cardiology and Cardiovascular Medicine, Genetics (clinical)
76
Scopus Publications
3686
Scholar Citations
29
Scholar h-index
41
Scholar i10-index
Scopus Publications
Association of genotype with treatment response and prognosis in dilated cardiomyopathy Nerea Mora-Ayestarán, Juan Pablo Ochoa, María Ángeles Espinosa-Castro, Marina Navarro-Peñalver, Eduardo Villacorta, María G. Crespo-Leiro, Vicente Climent-Payá, Gemma Lacuey-Lecumberri, María Luisa Peña-Peña, Francisco J. Bermúdez-Jiménez, José M. García-Pinilla, María Victoria Mogollón-Jiménez, Javier Limeres-Freire, Ana García-Álvarez, Antoni Bayés-Genís, Julián Palomino-Doza, Coloma Tirón, Tomás Ripoll-Vera, Javier López, María Brion, Silvia Vilches-Soria, María Sabater-Molina, Belén García-Berrocal, José M. Larrañaga-Moreira, María I. García-Álvarez, María Teresa Basurte-Elorz, Helena Llamas-Gómez, Irene Méndez-Fernández, Iris Paula Garrido-Bravo, Esther González-López, María Gallego-Delgado, Roberto Barriales-Villa, Enrique Lara-Pezzi, Pablo García-Pavía, Fernando Domínguez Revista Espanola De Cardiologia, 2026 Resumen Introducción y objetivos El remodelado inverso del ventrículo izquierdo (RIVI) es un objetivo terapéutico en la miocardiopatía dilatada (MCD). Se desconocen sus predictores genéticos y su impacto pronóstico a largo plazo. Métodos Se analizó a pacientes con MCD genotipada del estudio español con ecocardiogramas seriados. El objetivo principal fue evaluar la influencia del genotipo en el RIVI, definido como mejoría de la fracción de eyección en 12 ± 6 meses. Los objetivos secundarios incluyeron eventos cardiovasculares mayores, insuficiencia cardiaca (IC) avanzada y arritmias ventriculares mayores. Resultados Se incluyó a 711 pacientes (el 67% varones, edad media de 50,8 años, fracción de eyección inicial del 31%, y el 44% de genotipo positivo). El RIVI se observó en el 39% de los portadores y el 47% de los no portadores (p = 0,036). En el análisis multivariado, variantes en TTN, menor fracción de eyección basal y hospitalización por IC al diagnóstico se asociaron con mayor probabilidad de RIVI, mientras que mutaciones desmosómicas, de membrana nuclear y sarcoméricas, con menor RIVI. Tras un seguimiento de 4,5 años, el 26% de los pacientes con RIVI inicial presentaron deterioro posterior de la fracción de eyección, más frecuente en portadores (el 32 frente al 22%; p = 0,054). Estos pacientes tuvieron peor pronóstico que aquellos con RIVI mantenido: más eventos cardiovasculares mayores (el 25 frente al 7%), IC avanzada (el 18 frente al 1%) y arritmias ventriculares (el 12 frente al 4%) (todos, p < 0,05). Conclusiones El genotipo es determinante del RIVI inicial y sostenido. La pérdida de mejoría funcional es frecuente y se asocia con un peor pronóstico.
Postmortem genetic testing in sudden death: clinical and medico-legal implications María Sabater-Molina, Elisa Nicolas Rocamora, Serena Munteanu, Maria Dolores Fuentes Bermejo, Eduardo Osuna, Maria D. Pérez-Cárceles, Francisco Pastor Quirante, Juan Ramón Gimeno Blanes, Juan Pedro Hernández del Rincón International Journal of Legal Medicine, 2026 Background Anatomopathological autopsy and postmortem genetic testing play a crucial role in forensic medicine, particularly in elucidating the causes of sudden death (SD) that remain unexplained by conventional methods. This study explores their value in detecting inherited cardiac conditions with medico-legal and preventive implications. Methods From a 15-year forensic cohort, 12 cases of sudden unexpected death in which conventional autopsy was inconclusive or where a hereditary cardiac condition was suspected, were analyzed. Each case underwent histology, toxicology, and targeted next-generation sequencing panels covering genes associated with channelopathies and cardiomyopathies. Variants were classified according to ACMG/AMP guidelines, and family studies were performed when feasible. Results Integrated pathological and genetic analysis identified pathogenic or likely pathogenic variants in several cases, notably in RYR2 and CALM2 (channelopathies) and FLNC and PPP1R13L (cardiomyopathies). In these cases, genetic findings confirmed the diagnosis, while variants of uncertain significance were detected in others. Postmortem genetic testing proved essential in cases with structurally normal hearts or sub-diagnostic findings, such as concealed arrhythmogenic cardiomyopathy. Familial cascade testing uncovered additional carriers, enabling targeted surveillance and preventive measures. Conclusion Combining pathological autopsy and postmortem genetic testing significantly improves the diagnostic yield in unexplained SD, uncovers hidden hereditary cardiac conditions, and provides critical information for risk assessment in relatives. Beyond clinical implications, these findings contribute to accurate forensic determinations and prevention of miscarriages of justice. Integrating genetic studies into forensic protocols should become standard practice to ensure both scientific rigor and legal fairness. Clinical trial registration Not applicable.
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure Nerea Mora-Ayestarán, Juan Pablo Ochoa, Cristina Gómez-González, Marina Navarro-Peñalver, María Gallego-Delgado, José M Larrañaga-Moreira, Ainhoa Robles-Mezcua, María Teresa Basurte-Elorz, Jose Fernando Rodriguez-Palomares, Vicente Climent-Paya, Juan Jiménez-Jaímez, Maria Victoria Mogollón-Jiménez, Pablo Elpidio García-Granja, Ana García-Álvarez, María Luisa Peña-Peña, María Alvarez Barredo, Tomas Ripoll-Vera, Julián Palomino-Doza, Antoni Bayes-Genis, Coloma Tirón, Ana Isabel Fernández, María Sabater-Molina, Inés Toranzo, María G Crespo-Leiro, Victoria Doncel-Abad, Gemma Lacuey-Lecumberri, Javier Limeres-Freire, Maria I García-Álvarez, Eva Cabrera-Borrego, Zineb Kounka-Ait El Maalem, Silvia Vilches, Esther González-López, Eduardo Villacorta, José M García-Pinilla, Roberto Barriales-Villa, Juan Ramón Gimeno-Blanes, Pablo Garcia-Pavia, Fernando Domínguez European Heart Journal, 2025 Background and aims Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications. AHF events were studied according to DCM genotype. Methods Clinical data from 1203 genotyped DCM patients were collected from 19 Spanish centres. Patients were classified into high-risk arrhythmic genotypes (LMNA, FLNC, desmosomal genes, PLN, TMEM43, RBM20), TTN, other genes, and genotype negative (Gen−). The primary endpoint was a composite of AHF events (ventricular assist device implantation, heart transplant, and AHF-related mortality). The secondary endpoint was a combination of malignant ventricular arrhythmias (MVA). Results A DCM-causing variant was identified in a high-risk arrhythmic gene in 185 patients (15.4%), 193 (16.0%) had variants in TTN, 134 (11.1%) in other genes, and 691 (57.4%) were Gen−. After a median follow-up of 5.7 years (interquartile range 2.9–9.1 years), AHF events occurred in 45 (24.3%) patients in the high-risk arrhythmic group, while in 25 (18.7%), 25 (13.0%), and 70 (10.1%) patients with other genotypes, TTN, and Gen−, respectively (hazard ratio 1.85, 95% confidence interval 1.31–2.61 for high-risk arrhythmic genes compared with other groups). MVA occurred in 55 patients (29.7%) (hazard ratio 2.52, 95% confidence interval 1.81–3.51 for high-risk genotypes vs other groups). High-risk arrhythmic genotype was the main independent predictor of AHF in multivariate analysis. High-risk arrhythmic genotype and late gadolinium enhancement were independent predictors of MVA. Conclusions Patients with high-risk arrhythmic genotypes also experience more AHF events, supporting a differential therapeutic approach in this group of patients beyond sudden death prevention.
Impact of physical activity on presentation and prognosis of Brugada syndrome María Jesús Fernandez Gil, Lidia María Carrillo Mora, David Fernandez Vazquez, Francisco Melgarejo, Juan José Santos Mateo, Carmen Muñoz Esparza, Ana Isabel Rodriguez Serrano, Marina Navarro-Penalver, Juan Jose Sanchez Muñoz, Francisco-Javier Gimeno-Blanes, Maria Sabater-Molina, Juan R Gimeno Open Heart, 2025 Introduction and objectives Brugada syndrome (BS) is a channelopathy associated with an increased risk of sudden cardiac death (SCD). Intense physical activity is a recognised trigger of life-threatening arrhythmias in long QT syndrome, catecholaminergic ventricular tachycardia syndrome and arrhythmogenic cardiomyopathy, but it is believed to be safe in BS. The objective of this study is to assess the impact of regular physical activity on the expression and prognosis of BS. Methods 286 consecutive BS patients (aged 39.1±17.8 years old, 70.6% men) were included. Patients were classified according to the level of exercise and main discipline of sport they had practised. Results 190 (66.4%) were sedentary, 27 (9.4%) practised light exercise, 59 (20.6%) moderate and 10 (5.3%) intense. Patients engaged in ‘mixed or endurance’ types of exercise were diagnosed earlier than sedentary ones (HR: 2.1; 95% CI: 1.5 to 2.9; p<0.001) and experienced syncope at a younger age (24.9±16.2 vs 37.4±18.2 years; p=0.04). Physical activity was associated with ECG sport-related changes like bradycardia (Δ 6 bpm) and a shorter QTc (Δ 21 ms) and also to a higher ST elevation in right precordial leads (Δ 0.5 mm). Physical activity was not a predictor of arrhythmic events or SCD. Conclusions Regular physical activity was associated with a younger diagnosis and an earlier occurrence of syncopal episodes. BS patients engaged in ‘mixed or endurance’ sports have ECG changes associated with sport adaptation and higher ST segment elevation. Nevertheless, physical activity was not related to a higher arrhythmic risk in our cohort of patients with BS.
Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome Isabel Moscoso, Valentina Serrano-Cruz, María Cebro-Márquez, Marta E. Vilar-Sánchez, Iria Vidal-Abeijón, María Brion, Alejandro Blanco-Verea, Laura Martínez-Campelo, Sandra Feijoo-Bandín, Víctor Jiménez-Ramos, Juan Ramón Gimeno-Blanes, María Sabater-Molina, Juan Jiménez-Jáimez, José Ramón González-Juanatey, Moisés Rodríguez-Mañero, Ricardo Lage Scientific Reports, 2025 Brugada syndrome (BrS) is an inherited cardiac disorder characterized by electrical disturbances. Pathogenic variants in the SCN5A gene are implicated in 25-30% of probands. Although loss-of-function mutations in SCN5A gene drive clinical severity, incomplete penetrance and interindividual susceptibility suggest additional contributing factors. Emerging evidence highlights the role of microRNAs (miRNAs), short non-coding nucleotides involved in post-transcriptional gene regulation, in cardiovascular pathophysiology. We sought to identify differences in circulating miRNAs in SCN5A gene mutation carriers according to their phenotype. 27 patients from 10 families with SCN5A gene mutations were included. Among them, 15 had a confirmed diagnosis of BrS by spontaneous or induced electrocardiographic pattern 1, while the other 12 were asymptomatic mutation carriers. Circulating miRNAs profile differences were identified by using miScript miRNA PCR-Arrays and validated by qPCR-Taqman assay. Gene set enrichment analyses (GSEA) were performed. miScript miRNA screening showed statistical differences in 10 of 84 analyzed miRNAs. Taqman analysis verified a significant downregulation of miR-320a in SCN5A mutation carriers associated with BrS phenotype. GSEA revealed a wide range of signaling pathways, including cellular adhesion and actin cytoskeleton regulatory pathways. Receiver operating characteristic curve analysis indicates that dysregulated miR-320a may help predict phenotypic differences in SCN5A mutation carriers, supporting the potential of circulating miRNAs, particularly reduced miR-320a levels, as possible predictive biomarkers for the manifestation of BrS. Additionally, our results indicate that phenotype might depend on epigenetic regulation of the electromechanical properties of the heart.
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants Soledad García Hernandez, Luis de la Higuera Romero, Adrian Fernandez, Maria Luisa Peña Peña, Nerea Mora-Ayestaran, María Teresa Basurte-Elorz, Jose María Larrañaga-Moreira, Ivonne Cárdenas Reyes, Eduardo Villacorta, Maria Valverde-Gómez, Alicia Baustista-Paves, Elena Veira Villanueva, Martín Ortiz-Genga, Alex Lipov, Noel Brogger, María Sabater Molina, Eduardo Moreno-Escobar, Luis Ruiz-Guerrero, Petros Syrris, Xusto Fernández, Jesús Piqueras-Flores, Almudena Amor Salamanca, Connie R. Bezzina, Perry M. Elliott, Roberto Barriales-Villa, Juan Ramon Gimeno-Blanes, Pablo García-Pavía, Roddy Walsh, Juan Pablo Ochoa Circulation, 2025 BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder linked primarily to rare variants in sarcomeric genes, although recently certain nonsarcomeric genes have emerged as important contributors. Nonmendelian genetic variants with reproducible moderate-effect sizes and low penetrance, intermediate-effect variants (IEVs), can play a crucial role in modulating disease expression. Understanding the clinical impact of IEVs is crucial to unravel the complex genetic architecture of HCM. METHODS: We conducted an ancestry-based enrichment analysis of 14 validated HCM genes, including the 9 core sarcomeric and 5 nonsarcomeric genes (ALPK3 , CSRP3 , FHOD3 , FLNC , and TRIM63 ). Enrichment of intermediate frequency missense variants was evaluated in 10 981 patients with HCM, 4030 internal controls of European-ancestry, and 590 000 external controls from gnomAD non-Finnish Europeans. The population-attributable fraction was calculated to assess contribution of IEVs to HCM. Age-related disease penetrance, phenotypic severity (left ventricular maximum wall thickness), and major adverse cardiac events were analyzed in 11 991 HCM cases of the whole cohort according to 5 genetic groups: genotype negative, isolated IEV, monogenic, monogenic+IEV, and double monogenic. RESULTS: Fourteen IEVs in 8 genes were identified in 731 individuals (6.1% of the cohort), of whom 570 patients (4.8%) had IEVs in isolation: 198 (34.7%) in sarcomeric genes and 372 (65.3%) in nonsarcomeric genes. The contribution of IEVs to HCM genetics according to population-attributable fraction was estimated to be 4.9% (95% CI, 3.2–6.7). A significant gradient in penetrance, phenotypic severity, and major adverse cardiac events was observed across genetic groups. Compared with genotype-negative patients, IEV carriers displayed a younger median age at diagnosis (59 years of age [95% CI, 46–69] versus 61 years [95% CI, 49–70]; P =0.0073) and a higher mean left ventricular maximum wall thickness (18.1±3.7 versus 19.0±4.3; P =0.0043). IEVs also modified disease expression in individuals with monogenic variants, causing a more aggressive phenotype than in individuals from the monogenic-only group with HCM onset at younger age and a higher left ventricular maximum wall thickness (all P <0.0001), with major adverse cardiac event–free survival being significantly lower (93.3% versus 69.3% at 70 years of age; P <0.0001). CONCLUSIONS: IEVs are present in 6.1% of HCM cases and account for 4.8% of HCM genetic burden. IEVs also influence disease severity and outcomes, particularly when combined with monogenic disease-causing variants. Evaluation of IEVs should be considered when HCM genetic testing is performed.
Electrocardiogram May Fail to Identify Proportion of High-Risk Individuals: Analysis of Series of 50 Sudden Death Cases Mariela Salar-Alcaraz, Pablo Peñafiel-Verdú, Francisco J. Castro-García, Francisco A. Pastor-Quirante, Carmen Muñoz-Esparza, José M. López-Ayala, Juan Martínez-Sánchez, Juan J. Sánchez-Muñoz, Arcadi García-Alberola, María Sabater-Molina, Juan R. Gimeno-Blanes Cardiogenetics, 2025 Background: An electrocardiogram (ECG) is an essential and easily available diagnostic test in the management of cardiomyopathies and channelopathies. Different strategies based on ECG have been recommended for general population and athlete screening. Objectives: The purpose of this study was to explore the value of the ECG for the diagnosis of sudden cardiac death (SCD) cases. Methods: ECGs from 50 (aged 37.6 ± 19.9 years, 37 men) resuscitated cardiac arrest (26, 52%) and SCD cases (24, 48%) were analyzed. Relevant medical history and results from clinical tests were reviewed. ECG findings were compared with the final diagnosis. Results: Final ECG classification was as follows: 9 (18%) normal, 15 (30%) unspecific, 14 (28%) suggestive, and 12 (24%) diagnostic. Amongst 13 hypertrophic cardiomyopathy patients, ECGs were diagnostic in 6 (46%) and suggestive in 1 (8%). Arrhythmogenic right ventricular cardiomyopathy was diagnosed in seven patients, two (28%) with suggestive ECG. Dilated cardiomyopathy was diagnosed in four patients, two (50%) with suggestive ECG. Six patients had Brugada syndrome: four (66%) had diagnostic ECGs, and two (33%) had suggestive ECG. Long QT syndrome was diagnosed in four cases; only one (25%) had a diagnostic ECG. Three patients had other cardiomyopathies. After the complete study, 13 (26%) patients remained with a non-conclusive diagnosis; their ECGs were unspecific or normal. Conclusion: ECG can be unspecific or normal in an important percentage of SCD cases (48%). Furthermore, a significant proportion of SCD cases after a comprehensive study remain without a definite diagnosis (26%). These findings should be considered when planning SCD preventive strategies.
Postmortem study of adrenomedullin and cortisol in femoral serum and pericardial fluid related to acute pulmonary edema Daniel Martínez-Jiménez, Juan Pedro Hernández del Rincón, Maria Sabater-Molina, Cristina Pérez-Martínez, Carmen Torres, María D. Pérez-Cárceles, Aurelio Luna International Journal of Legal Medicine, 2025 Currently, various tools aid in determining the cause of death and the circumstances surrounding it. Thanatochemistry is one such method that provides insights into the physiopathological mechanisms of death and the behavior of specific biomarkers in different body fluids postmortem. Certain biomarkers, characterized by their stability and specificity to vital tissues like the lungs, are associated with mechanisms contributing to death, such as acute pulmonary edema (APE). This study aims to analyze the behavior of midregional pro-adrenomedullin (MR-proADM) and cortisol levels, measured in pericardial fluid and femoral serum, in relation to the severity of APE, categorized according to specific criteria. Samples were collected from a total of 92 corpses (77 males, 15 females) with a mean age of 56.7 ± 15.2 years. The severity of APE associated with the deaths was classified into three groups: slight or absent (n = 7; 8.6%), medium or moderate (n = 16; 19.8%), and intense (n = 58;71.6%).The determination of MR-proADM and cortisol levels was conducted using ELISA kits and an Immunoassay Analyzer, respectively. Our results reveal a significant increase in MR-proADM concentration with the severity of APE. Furthermore, a correlation was established between cortisol and MR-proADM concentrations in both pericardial fluid and femoral serum samples. This indicates that the severity of APE influences the production of ADM, regardless of the specific underlying pathophysiological mechanisms. Cortisol values were also found to be higher in the intense APE group compared to the moderate group.This study contributes to our understanding of the relationship between MR-proADM and cortisol, and the severity of APE, shedding light on potential applications in postmortem investigations.
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: A Spanish cohort Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimenez, José Manuel García-Pinilla, Irene Méndez Fernández, Maria Sabater-Molina, Ana Perez Asensio, Álvaro Marchán-Lopez, Fernando Arribas Ynsaurriaga, Hector Bueno, Julián A Palomino Doza Open Heart, 2024 BackgroundHypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncatingMYBPC3variants.Methods and resultsA cohort of patients and relatives with HCM diagnosis and carrying a truncatingMYBPC3variant were retrospectively recruited. Subjects had an average follow-up of 7.77 years, with an incident HCM phenotype of 10%. They were middle-aged adult patients (47±16.8 years) without significant comorbidities or symptoms. Hypertrophy was discrete with a significative difference between probands and relatives (17.5±4 mm vs 14.6±5 mm; p<0.0001). Ejection fraction was predominantly preserved (65%±10%). Despite it being the most common clinical event, relevant heart failure (observed in 8.1% of patients) was infrequent and commonly found in the presence of a second environmental precipitating agent. ESC-HCM risk calculator and modifier factors did not correlate with the risk of major events predicting events, which were low (1.51 per 100 patients/year) and associated with the severity of HCM, abnormal QRS in the ECG and age. Genetic factors and sex were not associated with major events.ConclusionsThis is the first molecularly homogeneous, contemporary cohort, including HCM patients secondary toMYBPC3truncating variants. Patients showed a good prognosis with a low event rate. In our cohort, major arrhythmic events were not related to measured environmental or genetic factors.
Endomyocardial biopsy: safety and prognostic utility in paediatric and adult myocarditis in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Long-Term Registry Alida L P Caforio, Juan P Kaski, Juan R Gimeno, Perry M Elliott, Cecile Laroche, Luigi Tavazzi, Michal Tendera, Michael Fu, Simone Sala, Petar M Seferovic, Tiina Heliö, Leonardo Calò, Olga Blagova, Ahmad Amin, Ingrid Kindermann, Gianfranco Sinagra, Andrea Frustaci, Daniel Bonnet, Philippe Charron, Aldo P Maggioni, , R Ferrari, A Alonso, J Bax, C Blomström-Lundqvist, S Gielen, P Lancellotti, A P Maggioni, N Maniadakis, F Pinto, F Ruschitzka, L Tavazzi, P Vardas, F Weidinger, U Zeymer, A Vahanian, A Budaj, N Dagres, N Danchin, V Delgado, J Emberson, O Friberg, C P Gale, G Heyndrickx, B Iung, S James, A P Kappetein, A P Maggioni, N Maniadakis, K V Nagy, G Parati, A-S Petronio, M Pietila, E Prescott, F Ruschitzka, F Van de Werf, F Weidinger, U Zeymer, C P Gale, B Beleslin, A Budaj, O Chioncel, N Dagres, N Danchin, J Emberson, D Erlinge, M Glikson, A Gray, M Kayikcioglu, A P Maggioni, K V Nagy, A Nedoshivin, A-P Petronio, J W Roos-Hesselink, L Wallentin, U Zeymer, B A Popescu, D Adlam, A L P Caforio, D Capodanno, M Dweck, D Erlinge, M Glikson, J Hausleiter, B Iung, M Kayikcioglu, P Ludman, L Lund, A P Maggioni, S Matskeplishvili, B Meder, K V Nagy, A Nedoshivin, D Neglia, A A Pasquet, J W Roos-Hesselink, F J Rossello, S M Shaheen, A Torbica, Alida Caforio, Juan Ramon Gimeno Blanes, Philippe Charron, Perry Elliott, Juan Pablo Kaski, Aldo P Maggioni, Luigi Tavazzi, Michal Tendera, J Pihkala, T Ojala, A Hiippala, T Jarvinen, J Lommi, T Helio, J Sinisalo, D Bonnet, D Khraiche, I Szezepanski, P Charron, S Mankikian, C Maupain, J-P Collet, E Gandjbakhch, M Kerneis, J-F Pruny, A Bauer, B Pfeiffer, S B Felix, D Beug, M Dorr, S Kaczmarek, K Lehnert, A-L Pedersen, M Bruder, M Gorenflo, R Arnold, S Uhl, V Ziesenitz, A Jung, E Roesch, M Böhm, I Kindermann, Y Linicus, C Werner, B Neurath, M Schild-Ungerbuehler, M Kindermann, J P Kaski, G Norrish, E Field, P Elliott, M Lorenzini, O Watkinson, E Wicks, A Anastasakis, K Ritsatos, V Vlagkouli, S Rammos, G Kourelis, A Giannakopoulou, E Karanasios, P Papachristou, G Papadopoulos, G Servos, M Maleki, F Noohi Bezanjani, A Amin, N Naderi, M Parsaee, S Taghavi, B Ghadrdoost, S Jafari, M Khoshavi, P Della Bella, S Sala, G Peretto, R Calabro, G Pacileo, M G Russo, G Limongelli, A Esposito, F Gragnano, R Gravino, T Marrazzo, D Masarone, V Pazzanese, M Rubino, S Tramonte, F Valente, M Caiazza, P Calabro, A Cirillo, B Trimarco, M-A Losi, C Di Nardo, A Giamundo, F Pacelli, G Canciello, S Iliceto, A Caforio, C Calore, L Leoni, M Perazzolo Marra, I Rigato, G Tarantini, A Schiavo, M Testolina, F Fedele, A Frustaci, M Alfarano, C Chimenti, F Drago, A Baban, L Calò, C Lanzillo, A Martino, M Uguccioni, E Zachara, G Halasz, F Re, G Sinagra, C Carriere, M Merlo, F Ramani, A Kavoliuniene, A Krivickiene, E Tamuleviciute-Prasciene, M Viezelis, J Celutkiene, L Balkeviciene, M Laukyte, E Paleviciute, F Asselbergs, N De Jonge, J H Kirkels, J Van Der Heijden, L Van Laake, A Sammani, K Mizia-Stec, M Tendera, M Wybraniec, A Czekaj, A Sikora-Puz, A Skoczynska, P Rubis, S Wisniowska-Smialek, J Grzybowski, N Ojrzynska, Z Bilinska, P Chmielewski, B Foss-Nieradko, E Michalak, M Stepien-Wojno, B Mazek, G Brzezinska-Rajszys, L Ziolkowska, A Boruc, E Plodzien, L Rocha Lopes, A R Almeida, I Cruz, A C Gomes, A R Pereira, C Ginghina, R Jurcut, E Apetrei, S Militaru, I Mircea Coman, A Mursa, B A Popescu, A Frigy, L Fehervari, Z Fogarasi, I Kocsis, I A Szabo, I Nikitin, E Resnik, M Komissarova, V Lazarev, M Shebzukhova, D Ustyuzhanin, O Blagova, I Alieva, V Kulikova, Y Lutokhina, E Pavlenko, N Varionchik, E Zaklyazminskaya, S Dzemeshkevich, E Kolbasova, N Kotlukova, V Rusinova, A D Ristic, P M Seferovic, A Pavlovic, G Radovanovic, D Simeunovic, I Zivkovic, I Milinkovic, F Gran Ipina, F Roses Noguer, D Albert Brotons, A Cequier, J Salazar-Mendiguchia, J Gonzalez, N Manito, P Garcia-Pavia, A Briceno, M Cobo-Marcos, F Dominguez, J R Gimeno Blanes, F J Castro, C Munoz Esparza, M Sabater Molina, M Sorli García, D Lopez Cuenca, T Ripoll-Vera, J Alvarez, J Nunez, Y Gomez, P L Sanchez Fernandez, E Villacorta, C Avila, L Bravo, E Diaz-Pelaez, M Gallego-Delgado, L Garcia-Cuenllas, B Plata, M Fu, U Canpolat European Heart Journal, 2024
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives Eva Cabrera-Romero, Juan Pablo Ochoa, Roberto Barriales-Villa, Francisco José Bermúdez-Jiménez, Vicente Climent-Payá, Esther Zorio, María Angeles Espinosa, María Gallego-Delgado, Marina Navarro-Peñalver, Xabier Arana-Achaga, Jesús Piqueras-Flores, Victoria Espejo-Bares, José F. Rodríguez-Palomares, Gemma Lacuey-Lecumberri, Javier López, Coloma Tiron, María Luisa Peña-Peña, Jose M. García-Pinilla, Rebeca Lorca, Tomas Ripoll-Vera, Carles Díez-López, María Victoria Mogollon, Ana García-Álvarez, Luis Martínez-Dolz, María Brion, Jose María Larrañaga-Moreira, Juan Jiménez-Jáimez, María Isabel García-Álvarez, Silvia Vilches, Eduardo Villacorta, María Sabater-Molina, Itziar Solla-Ruiz, Ana Royuela, Fernando Domínguez, Jesús G. Mirelis, Pablo Garcia-Pavia Journal of the American College of Cardiology, 2024
Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy Fernando de Frutos, Juan Pablo Ochoa, Gregory Webster, Mark Jansen, Paloma Remior, Torsten B. Rasmussen, Maria Sabater‐Molina, Roberto Barriales‐Villa, Francesca Girolami, Sergi Cesar, M. Eugenia Fuentes‐Cañamero, Reyes Alvarez García‐Rovés, Karim Wahbi, Javier Limeres, Milos Kubanek, Martijn G. Slieker, Georgia Sarquella‐Brugada, Dominic J. Abrams, Dennis Dooijes, Fernando Domínguez, Pablo Garcia‐Pavia, and Journal of the American Heart Association, 2024
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate with Bicuspid Aortic Valve Marcos Siguero-Álvarez, Alejandro Salguero-Jiménez, Joaquim Grego-Bessa, Jorge de la Barrera, Donal MacGrogan, Belén Prados, Fernando Sánchez-Sáez, Rebeca Piñeiro-Sabarís, Natalia Felipe-Medina, Carlos Torroja, Manuel José Gómez, María Sabater-Molina, Rubén Escribá, Ivonne Richaud-Patin, Olalla Iglesias-García, Mauro Sbroggio, Sergio Callejas, Declan P. O’Regan, Kathryn A. McGurk, Ana Dopazo, Giovanna Giovinazzo, Borja Ibañez, Lorenzo Monserrat, José María Pérez-Pomares, Fátima Sánchez-Cabo, Alberto M. Pendas, Angel Raya, Juan R. Gimeno-Blanes, José Luis de la Pompa Circulation, 2023
Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry Luis R Lopes, Maria-Angela Losi, Nabeel Sheikh, Cécile Laroche, Philippe Charron, Juan Gimeno, Juan P Kaski, Aldo P Maggioni, Luigi Tavazzi, Eloisa Arbustini, Dulce Brito, Jelena Celutkiene, Albert Hagege, Ales Linhart, Jens Mogensen, José Manuel Garcia-Pinilla, Tomas Ripoll-Vera, Hubert Seggewiss, Eduardo Villacorta, Alida Caforio, Perry M Elliott, , Christopher Peter Gale, Branko Beleslin, Andrzej Budaj, Ovidiu Chioncel, Nikolaos Dagres, Nicolas Danchin, David Erlinge, Jonathan Emberson, Michael Glikson, Alastair Gray, Meral Kayikcioglu, Aldo Maggioni, Klaudia Vivien Nagy, Aleksandr Nedoshivin, Anna-Sonia Petronio, Jolien Roo Hesselink, Lars Wallentin, Uwe Zeymer, Alida Caforio, Juan Ramon Gimeno Blanes, Philippe Charron, Perry Elliott, Juan Pablo Kaski, Aldo P Maggioni, Luigi Tavazzi, Michal Tendera, S Komissarova, N Chakova, S Niyazova, A Linhart, P Kuchynka, T Palecek, J Podzimkova, M Fikrle, E Nemecek, H Bundgaard, J Tfelt-Hansen, J Theilade, J J Thune, A Axelsson, J Mogensen, F Henriksen, T Hey, S K Nielsen, L Videbaek, S Andreasen, H Arnsted, A Saad, M Ali, J Lommi, T Helio, M S Nieminen, O Dubourg, N Mansencal, M Arslan, V Siam Tsieu, T Damy, A Guellich, S Guendouz, C M Tissot, A Lamine, S Rappeneau, A Hagege, M Desnos, A Bachet, M Hamzaoui, P Charron, R Isnard, L Legrand, C Maupain, E Gandjbakhch, M Kerneis, J-F Pruny, A Bauer, B Pfeiffer, S B Felix, M Dorr, S Kaczmarek, K Lehnert, A-L Pedersen, D Beug, M Bruder, M Böhm, I Kindermann, Y Linicus, C Werner, B Neurath, M Schild-Ungerbuehler, H Seggewiss, B Pfeiffer, A Neugebauer, P McKeown, A Muir, J McOsker, T Jardine, G Divine, P Elliott, M Lorenzini, O Watkinson, E Wicks, H Iqbal, S Mohiddin, C O'Mahony, N Sekri, G Carr-White, T Bueser, R Rajani, L Clack, J Damm, S Jones, R Sanchez-Vidal, M Smith, T Walters, K Wilson, S Rosmini, A Anastasakis, K Ritsatos, V Vlagkouli, T Forster, R Sepp, J Borbas, V Nagy, A Tringer, K Kakonyi, L A Szabo, M Maleki, F Noohi Bezanjani, A Amin, N Naderi, M Parsaee, S Taghavi, B Ghadrdoost, S Jafari, M Khoshavi, C Rapezzi, E Biagini, A Corsini, C Gagliardi, M Graziosi, S Longhi, A Milandri, L Ragni, S Palmieri, I Olivotto, A Arretini, G Castelli, F Cecchi, A Fornaro, B Tomberli, P Spirito, E Devoto, P Della Bella, G Maccabelli, S Sala, F Guarracini, G Peretto, M G Russo, R Calabro, G Pacileo, G Limongelli, D Masarone, V Pazzanese, A Rea, M Rubino, S Tramonte, F Valente, M Caiazza, A Cirillo, G Del Giorno, A Esposito, R Gravino, T Marrazzo, B Trimarco, M-A Losi, C Di Nardo, A Giamundo, F Musella, F Pacelli, A Scatteia, G Canciello, A Caforio, S Iliceto, C Calore, L Leoni, M Perazzolo Marra, I Rigato, G Tarantini, A Schiavo, M Testolina, E Arbustini, A Di Toro, L P Giuliani, A Serio, F Fedele, A Frustaci, M Alfarano, C Chimenti, F Drago, A Baban, L Calò, C Lanzillo, A Martino, M Uguccioni, E Zachara, G Halasz, F Re, G Sinagra, C Carriere, M Merlo, F Ramani, A Kavoliuniene, A Krivickiene, E Tamuleviciute-Prasciene, M Viezelis, J Celutkiene, L Balkeviciene, M Laukyte, E Paleviciute, Y Pinto, A Wilde, F W Asselbergs, A Sammani, J Van Der Heijden, L Van Laake, N De Jonge, R Hassink, J H Kirkels, J Ajuluchukwu, A Olusegun-Joseph, E Ekure, K Mizia-Stec, M Tendera, A Czekaj, A Sikora-Puz, A Skoczynska, M Wybraniec, P Rubis, E Dziewiecka, S Wisniowska-Smialek, Z Bilinska, P Chmielewski, B Foss-Nieradko, E Michalak, M Stepien-Wojno, B Mazek, L Rocha Lopes, A R Almeida, I Cruz, A C Gomes, A R Pereira, D Brito, H Madeira, A R Francisco, M Menezes, O Moldovan, T Oliveira Guimaraes, D Silva, C Ginghina, R Jurcut, A Mursa, B A Popescu, E Apetrei, S Militaru, I Mircea Coman, A Frigy, Z Fogarasi, I Kocsis, I A Szabo, L Fehervari, I Nikitin, E Resnik, M Komissarova, V Lazarev, M Shebzukhova, D Ustyuzhanin, O Blagova, I Alieva, V Kulikova, Y Lutokhina, E Pavlenko, N Varionchik, A D Ristic, P M Seferovic, I Veljic, I Zivkovic, I Milinkovic, A Pavlovic, G Radovanovic, D Simeunovic, M Zdravkovic, M Aleksic, J Djokic, S Hinic, S Klasnja, K Mircetic, L Monserrat, X Fernandez, D Garcia-Giustiniani, J M Larrañaga, M Ortiz-Genga, R Barriales-Villa, C Martinez-Veira, E Veira, A Cequier, J Salazar-Mendiguchia, N Manito, J Gonzalez, F Fernández-Avilés, C Medrano, R Yotti, S Cuenca, M A Espinosa, I Mendez, E Zatarain, R Alvarez, P Garcia Pavia, A Briceno, M Cobo-Marcos, F Dominguez, E De Teresa Galvan, J M García Pinilla, N Abdeselam-Mohamed, M A Lopez-Garrido, L Morcillo Hidalgo, M V Ortega-Jimenez, A Robles Mezcua, A Guijarro-Contreras, D Gomez-Garcia, M Robles-Mezcua, J R Gimeno Blanes, F J Castro, C Munoz Esparza, M Sabater Molina, M Sorli García, D Lopez Cuenca, Palma de Mallorca, T Ripoll-Vera, J Alvarez, J Nunez, Y Gomez, P L Sanchez Fernandez, E Villacorta, C Avila, L Bravo, E Diaz-Pelaez, M Gallego-Delgado, L Garcia-Cuenllas, B Plata, J E Lopez-Haldon, M L Pena Pena, E M Cantero Perez, E Zorio, M A Arnau, J Sanz, E Marques-Sule European Heart Journal Quality of Care and Clinical Outcomes, 2023
Natural History of MYH7-Related Dilated Cardiomyopathy Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Peñalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Cañamero, José M. García-Pinilla, María I. García-Álvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Díez-López, Luis R. Lopes, Karim Wahbi, Ana García-Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez-Palomares, María Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, María Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto José Perez-Perez, Francisco José Bermúdez-Jiménez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia, Eva Cabrera-Romero, Marta Cobo-Marcos, Luis Escobar-Lopez, Fernando Domínguez, Esther González-López, Juan Ramón Gimeno-Blanes, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, Maria Angeles Espinosa, Ana Isabel Fernández, Silvia Vilches, Cristina Gómez, Juan Gómez, Eliecer Coto, José Julián Rodríguez Reguero, S.R.B. Heymans, H.G. Brunner, Javier López-Díaz, Grażyna Truszkowska, Rafal Ploski, Przemysław Chmielewski, Renee Johnson, Ainhoa Robles-Mezcua, Arancha Díaz-Expósito, Alejandro I. Pérez-Cabeza, Clara Jiménez-Rubio, Vicente Climent Payá, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Angela Lopez-Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsova, Jens Mogensen, Sergi Cesar, Oscar Campuzano, Raúl Franco Gutiérrez, Jorge Alvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martinez, Rosa Macías, Juan Jiménez-Jáimez, María Luisa Peña-Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras-Flores, Martin Negreira-Caamaño, Jorge Martinez-del Río, María Victoria Mogollón Jiménez, Elena Villanueva, José Luis Gonzáles, Adrián Fernández, Ulises Toscanini, Lilian E. Favaloro, Carlota Hernández Díez Journal of the American College of Cardiology, 2022
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy Luis Escobar-Lopez, Juan Pablo Ochoa, Ana Royuela, Job A.J. Verdonschot, Matteo Dal Ferro, Maria Angeles Espinosa, Maria Sabater-Molina, Maria Gallego-Delgado, Jose M. Larrañaga-Moreira, Jose M. Garcia-Pinilla, Maria Teresa Basurte-Elorz, José F. Rodríguez-Palomares, Vicente Climent, Francisco J. Bermudez-Jimenez, María Victoria Mogollón-Jiménez, Javier Lopez, Maria Luisa Peña-Peña, Ana Garcia-Alvarez, Bernardo López-Abel, Tomas Ripoll-Vera, Julian Palomino-Doza, Antoni Bayes-Genis, Ramon Brugada, Uxua Idiazabal, Jesus G. Mirelis, Fernando Dominguez, Michiel T.H.M. Henkens, Ingrid P.C. Krapels, Han G. Brunner, Alessia Paldino, Denise Zaffalon, Luisa Mestroni, Gianfranco Sinagra, Stephane R.B. Heymans, Marco Merlo, Pablo Garcia-Pavia Journal of the American College of Cardiology, 2022
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6) Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, , Konstantin Strauch, Annette Peters, Holger Schulz, Lars Schwettmann, Reiner Leidl, Margit Heier, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, , Pascal Defaye, Frédéric Anselme, Jean Philippe Darmon, François Wiart, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George, Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon, Connie R. Bezzina Nature Genetics, 2022
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, , Konstantin Strauch, Annette Peters, Holger Schulz, Lars Schwettmann, Reiner Leidl, Margit Heier, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, , Pascal Defaye, Frédéric Anselme, Jean Philippe Darmon, François Wiart, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George, Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon, Connie R. Bezzina Nature Genetics, 2022
Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease Maria Sabater Molina, Elisa Nicolás Rocamora, Asunción Iborra Bendicho, Elisa García Vázquez, Esther Zorio, Fernando Domínguez Rodriguez, Cristina Gil Ortuño, Ana Isabel Rodríguez, Antonio J. Sánchez-López, Rubén Jara Rubio, Antonio Moreno-Docón, Pedro J. Marcos, Pablo García Pavía, Roberto Barriales Villa, Juan R. Gimeno Blanes Plos One, 2022
Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy Luis Escobar-Lopez, Juan Pablo Ochoa, Jesús G. Mirelis, María Ángeles Espinosa, Marina Navarro, María Gallego-Delgado, Roberto Barriales-Villa, Ainhoa Robles-Mezcua, María Teresa Basurte-Elorz, Laura Gutiérrez García-Moreno, Vicente Climent, Juan Jiménez-Jaimez, María Victoria Mogollón-Jiménez, Javier Lopez, María Luisa Peña-Peña, Ana García-Álvarez, María Brion, Tomas Ripoll-Vera, Julián Palomino-Doza, Coloma Tirón, Uxua Idiazabal, Maria Noël Brögger, Soledad García-Hernández, María Alejandra Restrepo-Córdoba, Esther Gonzalez-Lopez, Irene Méndez, María Sabater, Eduardo Villacorta, José M. Larrañaga-Moreira, Ana Abecia, Ana Isabel Fernández, José M. García-Pinilla, José F. Rodríguez-Palomares, Juan Ramón Gimeno-Blanes, Antoni Bayes-Genis, Enrique Lara-Pezzi, Fernando Domínguez, Pablo Garcia-Pavia Journal of the American College of Cardiology, 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, Massimiliano Lorenzini, Menelaos Pavlou, Juan Pablo Ochoa, Constantinos O’Mahony, Maria Alejandra Restrepo-Cordoba, Diego Segura-Rodriguez, Francisco Bermúdez-Jiménez, Pilar Molina, Sofia Cuenca, Flavie Ader, Jose M. Larrañaga-Moreira, Maria Sabater-Molina, Maria I. Garcia-Alvarez, Larraitz Gaztañaga Arantzamendi, Grazyna Truszkowska, Martin Ortiz-Genga, Itziar Solla Ruiz, Søren Kristian Nielsen, Torsten Bloch Rasmussen, Ainhoa Robles Mezcua, Jorge Alvarez-Rubio, Hans Eiskjaer, Mathias Gautel, José M. Garcia-Pinilla, Tomas Ripoll-Vera, Jens Mogensen, Javier Limeres Freire, Jose F. Rodríguez-Palomares, Maria Luisa Peña-Peña, Diego Rangel-Sousa, Julian Palomino-Doza, Xabier Arana Achaga, Zofia Bilinska, Estibaliz Zamarreño Golvano, Vincent Climent, Marina Navarro Peñalver, Roberto Barriales-Villa, Philippe Charron, Raquel Yotti, Esther Zorio, Juan Jiménez-Jáimez, Pablo Garcia-Pavia, Perry M. Elliott, and JAMA Cardiology, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy Carmen Suay-Corredera, Maria Rosaria Pricolo, Elías Herrero-Galán, Diana Velázquez-Carreras, David Sánchez-Ortiz, Diego García-Giustiniani, Javier Delgado, Juan José Galano-Frutos, Helena García-Cebollada, Silvia Vilches, Fernando Domínguez, María Sabater Molina, Roberto Barriales-Villa, Giulia Frisso, Javier Sancho, Luis Serrano, Pablo García-Pavía, Lorenzo Monserrat, Jorge Alegre-Cebollada Journal of Biological Chemistry, 2021
Prevented Sudden Cardiac Death and Neurologic Recovery in Inherited Heart Diseases Juan P. Hernández del Rincón, Mari C. Olmo Conesa, Ana Rodríguez Serrano, Helena García Pulgar, David López Cuenca, Carmen Muñoz Esparza, Marina Navarro Peñalver, Juan José Santos Mateo, Elisa Nicolás Rocamora, Cristina Gil Ortuño, María Sabater-Molina, Juan Ramón Gimeno Blanes, Francisco Pastor Quirante Frontiers in Cardiovascular Medicine, 2021
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry Folkert W. Asselbergs, Arjan Sammani, Perry Elliott, Juan R. Gimeno, Luigi Tavazzi, Michael Tendera, Juan Pablo Kaski, Aldo P. Maggioni, Pawel P. Rubis, Ruxandra Jurcut, Tiina Heliö, Leonardo Calò, Gianfranco Sinagra, Marija Zdravkovic, Iacopo Olivotto, Aušra Kavoliūnienė, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, Cardiomyopathy & Myocarditis Registry Investigators Group Esc Heart Failure, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls Roddy Walsh, Najim Lahrouchi, Rafik Tadros, Florence Kyndt, Charlotte Glinge, Pieter G. Postema, Ahmad S. Amin, Eline A. Nannenberg, James S. Ware, Nicola Whiffin, Francesco Mazzarotto, Doris Škorić-Milosavljević, Christian Krijger, Elena Arbelo, Dominique Babuty, Hector Barajas-Martinez, Britt M. Beckmann, Stéphane Bézieau, J. Martijn Bos, Jeroen Breckpot, Oscar Campuzano, Silvia Castelletti, Candan Celen, Sebastian Clauss, Anniek Corveleyn, Lia Crotti, Federica Dagradi, Carlo de Asmundis, Isabelle Denjoy, Sven Dittmann, Patrick T. Ellinor, Cristina Gil Ortuño, Carla Giustetto, Jean-Baptiste Gourraud, Daisuke Hazeki, Minoru Horie, Taisuke Ishikawa, Hideki Itoh, Yoshiaki Kaneko, Jørgen K. Kanters, Hiroki Kimoto, Maria-Christina Kotta, Ingrid P.C. Krapels, Masahiko Kurabayashi, Julieta Lazarte, Antoine Leenhardt, Bart L. Loeys, Catarina Lundin, Takeru Makiyama, Jacques Mansourati, Raphaël P. Martins, Andrea Mazzanti, Stellan Mörner, Carlo Napolitano, Kimie Ohkubo, Michael Papadakis, Boris Rudic, Maria Sabater Molina, Frédéric Sacher, Hatice Sahin, Georgia Sarquella-Brugada, Regina Sebastiano, Sanjay Sharma, Mary N. Sheppard, Keiko Shimamoto, M.Benjamin Shoemaker, Birgit Stallmeyer, Johannes Steinfurt, Yuji Tanaka, David J. Tester, Keisuke Usuda, Paul A. van der Zwaag, Sonia Van Dooren, Lut Van Laer, Annika Winbo, Bo G. Winkel, Kenichiro Yamagata, Sven Zumhagen, Paul G.A. Volders, Steven A. Lubitz, Charles Antzelevitch, Pyotr G. Platonov, Katja E. Odening, Dan M. Roden, Jason D. Roberts, Jonathan R. Skinner, Jacob Tfelt-Hansen, Maarten P. van den Berg, Morten S. Olesen, Pier D. Lambiase, Martin Borggrefe, Kenshi Hayashi, Annika Rydberg, Tadashi Nakajima, Masao Yoshinaga, Johan B. Saenen, Stefan Kääb, Pedro Brugada, Tomas Robyns, Daniela F. Giachino, Michael J. Ackerman, Ramon Brugada, Josep Brugada, Juan R. Gimeno, Can Hasdemir, Pascale Guicheney, Silvia G. Priori, Eric Schulze-Bahr, Naomasa Makita, Peter J. Schwartz, Wataru Shimizu, Takeshi Aiba, Jean-Jacques Schott, Richard Redon, Seiko Ohno, Vincent Probst, Alain Al Arnaout, Mathieu Amelot, Frédéric Anselme, Olivier Billon, Pascal Defaye, Jean-Marc Dupuis, Laurence Jesel, Gabriel Laurent, Philippe Maury, Jean-Luc Pasquie, Francois Wiart, Elijah R. Behr, Julien Barc, Connie R. Bezzina Genetics in Medicine, 2021
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis Mythily Ganapathi, Loukas Argyriou, Francisco Martínez-Azorín, Susanne Morlot, Gökhan Yigit, Teresa M. Lee, Bernd Auber, Alexander von Gise, Donald S. Petrey, Holger Thiele, Lukas Cyganek, María Sabater-Molina, Priyanka Ahimaz, Juan Cabezas-Herrera, Moisés Sorlí-García, Arne Zibat, Markus D. Siegelin, Peter Burfeind, Christie M. Buchovecky, Gerd Hasenfuss, Barry Honig, Yun Li, Alejandro D. Iglesias, Bernd Wollnik Human Genetics, 2020
Trabeculated myocardium in hypertrophic cardiomyopathy: Clinical consequences José David Casanova, Josefa González Carrillo, Jesús Martín Jiménez, Javier Cuenca Muñoz, Carmen Muñoz Esparza, Marcos Siguero Alvárez, Rubén Escribá, Esther Burillo Milla, José Luis de la Pompa, Ángel Raya, Juan Ramón Gimeno, María Sabater Molina, Gregorio Bernabé García Journal of Clinical Medicine, 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, Matteo Dal Ferro, Davide Stolfo, Renee Johnson, José M. Larrañaga-Moreira, Ainhoa Robles-Mezcua, Jose F. Rodriguez-Palomares, Guillem Casas, Maria Luisa Peña-Peña, Luis Rocha Lopes, Maria Gallego-Delgado, Maria Franaszczyk, Gemma Laucey, Diego Rangel-Sousa, Mayte Basurte, Julian Palomino-Doza, Eduardo Villacorta, Zofia Bilinska, Javier Limeres Freire, José M. Garcia Pinilla, Roberto Barriales-Villa, Diane Fatkin, Gianfranco Sinagra, Pablo Garcia-Pavia, Juan R. Gimeno, Jens Mogensen, Lorenzo Monserrat, Perry M. Elliott, European Genetic Cardiomyopathies Initiative Investigators* Circulation Heart Failure, 2020
Genetics of feline hypertrophic cardiomyopathy Cristina Gil‐Ortuño, Patricia Sebastián‐Marcos, María Sabater‐Molina, Elisa Nicolas‐Rocamora, Juan R. Gimeno‐Blanes, María J. Fernández del Palacio Clinical Genetics, 2020
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler, Eva Morava, Fabrizio Barbetti, Francesca Forzano, Francesca Mari, Francesco Muntoni, Frederic Tort, Henry James Houlden, Maria-Isabel Tejada, Jan Senderek, Javier Benitez, Javier Corral De La Calle, Jordi Serra, José Ma Millán, Jose Segovia, Juan Ramon Gimeno Blanes, Judith Armstrong, Koksal Ozgul, Laura Vilarinho, Lluis Montoliu, Manuel Posada, Maria Antonietta Mencarelli, Marina Mora, Paola Bianchi, Pavel Seeman, Perry M. Elliott, Alessandra Ferlini, Alexis Brice, Brunhilde Wirth, Francesco Muntoni, Mike Hanna, Sarah Tabrizi, Thomas Klockgether, Vincent Timmerman, Volker Straub, Semra Hiz Kurul, Yavuz Oktay, Serdal Gungor, Ahmet Yaramis, Uluc Yis, Alfons Macaya, Antonia Ribes, Aurora Pujol, Conxi Lázaro, Daniel Grinberg, Eduardo Tizzano, Francesc Cardellach, Francesc Palau, Montse Milà, Pia Gallano, Rafael Artuch, Ramon MartiSeves, Gonzalo Villanueva, Silvia Vidal, Gloria Garrabou, Susanna Balcells, Roser Urreizti, Estrella López, Ivon Cuscó, Irene Valenzuela, Maria Sabater Journal of Molecular Diagnostics, 2020
A study of the pathogenicity of variants in familial heart disease. The value of cosegregation American Journal of Translational Research, 2019
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, 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 Journal of the American College of Cardiology, 2018
Value of the “Standing Test” in the Diagnosis and Evaluation of Beta-blocker Therapy Response in Long QT Syndrome Carmen Muñoz-Esparza, Esther Zorio, Diana Domingo Valero, Pablo Peñafiel-Verdú, Juan J. Sánchez-Muñoz, Esperanza García-Molina, María Sabater, Marina Navarro, Irene San-Román, Inmaculada Pérez, Juan J. Santos, Valentín Cabañas-Perianes, Mariano Valdés, Domingo Pascual, Arcadio García-Alberola, Juan R. Gimeno Blanes Revista Espanola De Cardiologia, 2017
Mutation in JPH2 cause dilated cardiomyopathy M. Sabater‐Molina, M. Navarro, E. García‐Molina Sáez, I. Garrido, D. Pascual‐Figal, J. González Carrillo, J.R. Gimeno Blanes Clinical Genetics, 2016
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy Guillermo Luxán, Jesús C Casanova, Beatriz Martínez-Poveda, Belén Prados, Gaetano D'Amato, Donal MacGrogan, Alvaro Gonzalez-Rajal, David Dobarro, Carlos Torroja, Fernando Martinez, José Luis Izquierdo-García, Leticia Fernández-Friera, María Sabater-Molina, Young-Y Kong, Gonzalo Pizarro, Borja Ibañez, Constancio Medrano, Pablo García-Pavía, Juan R Gimeno, Lorenzo Monserrat, Luis J Jiménez-Borreguero, José Luis de la Pompa Nature Medicine, 2013
Barth syndrome in adulthood: A clinical case María Sabater-Molina, Encarna Guillén-Navarro, Esperanza García-Molina, María Juliana Ballesta-Martínez, Fuensanta Escudero, Francisco Ruiz-Espejo Revista Espanola De Cardiologia, 2013
Characteristics of Sudden Death in Inherited Heart Disease Juan R. Gimeno, María J. Oliva, Javier Lacunza, Arcadi G. Alberola, María Sabater, Juan Martínez-Sánchez, Daniel Saura, Antonio Romero, Mariano Valdés Revista Espanola De Cardiologia, 2010
Postmortem genetic testing in sudden death: clinical and medico-legal implications M Sabater-Molina, E Nicolas Rocamora, S Munteanu, ... International Journal of Legal Medicine, 1-11 , 2026 2026
Abnormal ventricular wall patterning precedes and drives MYBPC3 hypertrophic cardiomyopathy A Salguero-Jiménez, A Pau-Navalón, M Siguero-Álvarez, ... bioRxiv, 2026.03. 25.714341 , 2026 2026
Exercise training in hypertrophic cardiomyopathy: a systematic review, meta-analysis, and meta-regression AB Ruiz, JR Gimeno-Blanes, FM Muñoz-Franco, M Sabater-Molina, ... 2026
PO50 Transcriptomic Signatures Underlying Phenotypic Heterogeneity in Hypertrophic Cardiomyopathy MS Molina, JP Hernández del Rincón, S Munteanu, CG Ortuño, J Wagih, ... European Journal of Preventive Cardiology 33 (Supplement_1), zwag115. 050 , 2026 2026
Asociación del genotipo con la respuesta al tratamiento y pronóstico de la miocardiopatía dilatada NM Ayestarán, JP Ochoa, MÁE Castro, MN Peñalver, E Villacorta, ... Revista española de cardiología 79 (5), 417-429 , 2026 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure N Mora-Ayestarán, JP Ochoa, C Gómez-González, M Navarro-Peñalver, ... European Heart Journal 46 (48), 5222-5233 , 2025 2025 Citations: 8
Geographic variations in the prevalence of inherited cardiac diseases and in the incidence of related sudden death AR López, MS Molina, CG Ortuño, MCO Conesa, CM Esparza, NR López, ... International Journal of Cardiology, 134083 , 2025 2025 Citations: 2
[[es]] Asociación del genotipo con la respuesta al tratamiento y pronóstico de la miocardiopatía dilatada N Mora-Ayestarán, JP Ochoa, MÁ Espinosa-Castro, M Navarro-Peñalver, ... Revista Española de Cardiología , 2025 2025
Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome I Moscoso, V Serrano-Cruz, M Cebro-Márquez, ME Vilar-Sánchez, ... Scientific Reports 15 (1), 36885 , 2025 2025 Citations: 2
Redefining the genetic architecture of hypertrophic cardiomyopathy: Role of Intermediate-effect variants S García Hernandez, L De la Higuera Romero, A Fernandez, ... Circulation 152 (15), 1060-1075 , 2025 2025 Citations: 24
Association of genotype with treatment response and prognosis in dilated cardiomyopathy N Mora-Ayestarán, JP Ochoa, MÁE Castro, M Navarro-Peñalver, ... Revista Española de Cardiología (English Edition) , 2025 2025 Citations: 2
6019-138. REGISTRO NACIONAL SOBRE LA IMPLANTACIÓN DE FÁRMACOS INHIBIDORES DE LA MIOSINA EN PACIENTES CON MIOCARDIOPATÍA HIPERTRÓFICA SINTOMÁTICA EC Romero, LMC Mora, MJB Álvarez, NF Villa, MS Molina, AR Mezcua, ... Revista Española de Cardiología 78, 107892 , 2025 2025
Changes in maximal oxygen consumption, VT2, ventilatory and metabolic efficiency in patients with hypertrophic cardiomyopathy following 12 weeks of concurrent resistance and … A Bayonas-Ruiz, FM Munoz-Franco, M Sabater-Molina, ... ACTA PHYSIOLOGICA 241 , 2025 2025
Discovering Genetic Variants in Hypertrophic Cardiomyopathy With Multiple Machine Learning Techniques D Lozano-Paredes, L Bote-Curiel, M Sabater-Molina, C Bielza, ... IEEE Transactions on Computational Biology and Bioinformatics , 2025 2025
Electrocardiogram May Fail to Identify Proportion of High-Risk Individuals: Analysis of Series of 50 Sudden Death Cases M Salar-Alcaraz, P Peñafiel-Verdú, FJ Castro-García, FA Pastor-Quirante, ... Cardiogenetics 15 (1), 5 , 2025 2025
Impact of physical activity on presentation and prognosis of Brugada syndrome MJ Fernández-Gil, LM Carrillo-Mora, D Fernández-Vázquez, ... BMJ PUBLISHING GROUP , 2025 2025
Postmortem study of adrenomedullin and cortisol in femoral serum and pericardial fluid related to acute pulmonary edema D Martínez-Jiménez, JP Hernández del Rincón, M Sabater-Molina, ... International Journal of Legal Medicine 139 (1), 353-359 , 2025 2025 Citations: 3
A novel therapeutic strategy for Hypertrophic Cardiomyopathy caused by MYBPC3 variants using antisense oligonucleotides SE Margaretha Munteanu, E Nicolas Rocamora, C Martinez Perez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 1401-1401 , 2024 2024
Could telomere length serve as an early biomarker in hypertrophic cardiomyopathy? A Judez Serrano, S Louchachha Medhi, SE Margaretha Munteanu, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 1402-1402 , 2024 2024
Does the phenomenon of genetic anticipation exist in the hypertrophic cardiomyopathy? J Wagih Gomez, L Maria Carrillo, C Gil, E Nicolas Rocamora, D Lopez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 1016-1016 , 2024 2024
MOST CITED SCHOLAR PUBLICATIONS
Dietary fructooligosaccharides and potential benefits on health M Sabater-Molina, E Larqué, F Torrella, S Zamora Journal of physiology and biochemistry 65 (3), 315-328 , 2009 2009 Citations: 536
Biological significance of dietary polyamines E Larqué, M Sabater-Molina, S Zamora Nutrition 23 (1), 87-95 , 2007 2007 Citations: 423
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy G Luxán, JC Casanova, B Martínez-Poveda, B Prados, G D'amato, ... Nature medicine 19 (2), 193-201 , 2013 2013 Citations: 412
Genetics of hypertrophic cardiomyopathy: A review of current state M Sabater‐Molina, I Pérez‐Sánchez, JP Hernández del Rincón, ... Clinical genetics 93 (1), 3-14 , 2018 2018 Citations: 234
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene MM Akhtar, M Lorenzini, M Cicerchia, JP Ochoa, TM Hey, ... Circulation: Heart Failure 13 (10), e006832 , 2020 2020 Citations: 202
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility J Barc, R Tadros, C Glinge, DY Chiang, M Jouni, F Simonet, SJ Jurgens, ... Nature genetics 54 (3), 232-239 , 2022 2022 Citations: 156
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy JP Ochoa, M Sabater-Molina, JM García-Pinilla, J Mogensen, ... Journal of the American College of Cardiology 72 (20), 2457-2467 , 2018 2018 Citations: 119
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis A Lopez-Sainz, F Dominguez, LR Lopes, JP Ochoa, R Barriales-Villa, ... Journal of the American College of Cardiology 76 (2), 186-197 , 2020 2020 Citations: 114
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls R Walsh, N Lahrouchi, R Tadros, F Kyndt, C Glinge, PG Postema, ... Genetics in Medicine 23 (1), 47-58 , 2021 2021 Citations: 100
Natural History of MYH7 -Related Dilated Cardiomyopathy F De Frutos, JP Ochoa, M Navarro-Peñalver, A Baas, JV Bjerre, E Zorio, ... Journal of the American College of Cardiology 80 (15), 1447-1461 , 2022 2022 Citations: 96
Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease M Sabater Molina, E Nicolas Rocamora, AI Bendicho, EG Vázquez, ... PloS one 17 (2), e0263140 , 2022 2022 Citations: 89
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype CL Hall, MM Akhtar, M Sabater-Molina, M Futema, A Asimaki, ... International journal of cardiology 307, 101-108 , 2020 2020 Citations: 86
Association of left ventricular systolic dysfunction among carriers of truncating variants in filamin C with frequent ventricular arrhythmia and end-stage heart failure MM Akhtar, M Lorenzini, M Pavlou, JP Ochoa, C O’mahony, ... JAMA cardiology 6 (8), 891-901 , 2021 2021 Citations: 80
Effects of dietary polyamines at physiologic doses in early-weaned piglets M Sabater-Molina, E Larqué, F Torrella, J Plaza, T Lozano, A Muñoz, ... Nutrition 25 (9), 940-946 , 2009 2009 Citations: 69
Clinical risk score to predict pathogenic genotypes in patients with dilated cardiomyopathy L Escobar-Lopez, JP Ochoa, A Royuela, JAJ Verdonschot, M Dal Ferro, ... Journal of the American College of Cardiology 80 (12), 1115-1126 , 2022 2022 Citations: 66
Polyamines in human breast milk for preterm and term infants J Plaza-Zamora, M Sabater-Molina, M Rodríguez-Palmero, M Rivero, ... British journal of nutrition 110 (3), 524-528 , 2013 2013 Citations: 61
Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC … LR Lopes, MA Losi, N Sheikh, C Laroche, P Charron, J Gimeno, JP Kaski, ... European Heart Journal-Quality of Care and Clinical Outcomes 9 (1), 42-53 , 2023 2023 Citations: 58
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy C Suay-Corredera, MR Pricolo, E Herrero-Galán, D Velázquez-Carreras, ... Journal of Biological Chemistry 297 (1), 100854 , 2021 2021 Citations: 53
Factors influencing the phenotypic expression of hypertrophic cardiomyopathy in genetic carriers I Pérez-Sánchez, AJ Romero-Puche, EGM Sáez, M Sabater-Molina, ... Revista Española de Cardiología (English Edition) 71 (3), 146-154 , 2018 2018 Citations: 50
A gene variant in the transcription factor 7-like 2 (TCF7L2) is associated with an increased risk of gestational diabetes mellitus A Pagán, M Sabater-Molina, J Olza, MT Prieto-Sánchez, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 180, 77-82 , 2014 2014 Citations: 49
