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COLOMA TIRON DE LLANO

Firma
COLOMA TIRON-DE LLANO
Position
Investigadors/es Col·laboradors/es
Collaborators

Projectes

Codi oficial: PI22/00422 Start date:01/01/2023 Data fi: 31/12/2025 Investigador/a principal: RAMON BRUGADA TERRADELLAS, MIREIA ALCALDE MASEGÚ Organisme finançador: INSTITUTO DE SALUD CARLOS III
Codi oficial: SGR-Cat 2021 - Genètica Cardiovascular (Gencardio) Start date:01/01/2022 Data fi: 30/06/2025 Investigador/a principal: RAMON BRUGADA TERRADELLAS Organisme finançador: AGÈNCIA DE GESTIÓ UNIVERSITARIS I RECERCA (AGAUR)
Codi oficial: Estudi CIBER-SPANISH I Start date:15/01/2024 Data fi: 15/05/2028 Investigador/a principal: RAMON BRUGADA TERRADELLAS

Publicacions

Perez-Serra, A, Toro, R, Martinez-Barrios, E, Iglesias, A, Fernandez-Falgueras, A, Alcalde, M, Coll, M, Puigmule, M, del Olmo, B, Pico, F, Lopez, L, Arbelo, E, Cesar, S, Llano, CTD, Mangas, A, Brugada, J, Sarquella-Brugada, G, Brugada, R, Campuzano, O

Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 dx.doi.org/10.3390/ijms25073807
Fernandez-Falgueras, A, Coll, M, Iglesias, A, Tiron, C, Campuzano, O, Brugada, R

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

Plos One, 2024, 19 dx.doi.org/10.1371/journal.pone.0297914
Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S, Arbelo E, Coll M, Perez-Serra A, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Fiol V, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, García-Alvarez A, Jordà P, Tiron de Llano C, Toro R, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

HUMAN GENETICS, 2022, 141, 1579-1589 dx.doi.org/10.1007/s00439-021-02370-4
Alcalde M, Nogué-Navarro L, Tiron C, Fernandez-Falgueras A, Iglesias A, Simon A, Buxó M, Pérez-Serra A, Puigmulé M, López L, Picó F, Del Olmo B, Corona M, Campuzano O, Moral S, Castella J, Coll M, Brugada R

Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2022, 58, 102688-102688 dx.doi.org/10.1016/j.fsigen.2022.102688
Coll M, Fernàndez-Falgueras A, Tiron C, Iglesias A, Buxó M, Simón A, Nogué-Navarro L, Moral S, Pérez-Serra A, Puigmulé M, Del Olmo B, Campuzano O, Castellà J, Picó F, Lopez L, Neto N, Corona M, Alcalde M, Brugada R

Post-mortem toxicology analysis in a young sudden cardiac death cohort

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2022, 59, 102723-102723 dx.doi.org/10.1016/j.fsigen.2022.102723
Tirón C, Campuzano O, Fernández-Falgueras A, Alcalde M, Loma-Osorio P, Zamora E, Caballero A, Sarquella-Brugada G, Cesar S, Garcia-Cuenllas L, García A, Jordà P, Arbelo E, Tomás-Querol C, Pineda V, Martínez D, Brugada R

Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Myocarditis

Circulation-Genomic and Precision Medicine, 2022, 15 dx.doi.org/10.1161/CIRCGEN.121.003408
Jordà P, Martínez D, Farrero M, Marcos MÁ, Sandoval E, Castel MÁ, Pereda D, Quintana E, Arbelo E, Sánchez A, Campuzano Ò, Tirón de Llano C, Brugada R, Brugada J, Castellá M, Pérez-Villa F, García-Álvarez A

BAG3 Genetic Cardiomyopathy May Overlap Fulminant Myocarditis Clinical Findings

CIRCULATION-HEART FAILURE, 2022, 15 dx.doi.org/10.1161/CIRCHEARTFAILURE.121.008443
Coll M, Fernandez-Falgueras A, Iglesias A, Del Olmo B, Nogue-Navarro L, Simon A, Perez Serra A, Puigmule M, Lopez L, Pico F, Corona M, Vallverdu-Prats M, Tiron C, Campuzano O, Castella J, Brugada R, Alcalde M

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 dx.doi.org/10.3390/ijms232012640
Vallverdú-Prats M, Alcalde M, Sarquella-Brugada G, Cesar S, Arbelo E, Fernandez-Falgueras A, Coll M, Pérez-Serra A, Puigmulé M, Iglesias A, Fiol V, Ferrer-Costa C, Olmo BD, Picó F, Lopez L, Jordà P, García-Álvarez A, Llano CT, Toro R, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Journal of Personalized Medicine, 2021, 11 dx.doi.org/10.3390/jpm11030162
Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, Coll M, Puigmulé M, Arbelo E, García-Álvarez A, Sarquella-Brugada G, Cesar S, Tiron C, Iglesias A, Brugada J, Brugada R, Campuzano O

Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

Journal of Personalized Medicine, 2021, 11 dx.doi.org/10.3390/jpm11020130

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