BERNAT DEL OLMO CABESTRÉ

Genética Cardiovascular

Martinez-Barrios E, Sarquella-Brugada G, Perez-Serra A, Fernandez-Falgueras A, Cesar S, Alcalde M, Coll M, Puigmulé M, Iglesias A, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, Fiol V, Cruzalegui J, Hernandez C, Arbelo E, Díez-Escuté N, Cerralbo P, Grassi S, Oliva A, Toro R, Brugada J, Brugada R, Campuzano O

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

INTERNATIONAL JOURNAL OF LEGAL MEDICINE, 2023, 137, 345-351 dx.doi.org/10.1007/s00414-023-02951-0

Genética Cardiovascular

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

Epidemiología descriptiva, genética y prevención del cáncer , Genética Cardiovascular , Oncología de Precisión de Girona

Carbó-Bagué A, Rubió-Casadevall J, Puigdemont M, Sanvisens A, Oliveras G, Coll M, Del Olmo B, Perez-Bueno F, Marcos-Gragera R

Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe

Cancers, 2022, 14 dx.doi.org/10.3390/cancers14030780

Genética Cardiovascular

Martínez-Barrios E, Sarquella-Brugada G, Pérez-Serra A, Fernández-Falgueras A, Cesar S, Coll M, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Ferrer-Costa C, Del Olmo B, Picó F, López L, Fiol V, Cruzalegui J, Hernández C, Arbelo E, Grassi S, Oliva A, Toro R, Brugada J, Brugada R, Campuzano O

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

Journal of Personalized Medicine, 2022, 12 dx.doi.org/10.3390/jpm12020241

Genética Cardiovascular

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

Genética Cardiovascular

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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

Genética Cardiovascular

0

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 dx.doi.org/10.3390/ijms232012640

Genética Cardiovascular

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

Genética Cardiovascular

Pinsach-Abuin ML, Del Olmo B, Pérez-Agustin A, Mates J, Allegue C, Iglesias A, Ma Q, Merkurjev D, Konovalov S, Zhang J, Sheikh F, Telenti A, Brugada J, Brugada R, Gymrek M, di Iulio J, Garcia-Bassets I, Pagans S

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

CELL REPORTS MEDICINE, 2021, 2, 100250-100250 dx.doi.org/10.1016/j.xcrm.2021.100250

Genética Cardiovascular

Sarquella-Brugada G, García-Algar O, Zambrano MD, Fernández-Falgueres A, Sailer S, Cesar S, Sebastiani G, Martí-Almor J, Aurensanz E, Cruzalegui JC, Merchan EF, Coll M, Pérez-Serra A, Del Olmo B, Fiol V, Iglesias A, Ferrer-Costa C, Puigmulé M, Lopez L, Pico F, Arbelo E, Jordà P, Brugada J, Brugada R, Campuzano O

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

Frontiers in Pediatrics, 2021, 9, 704580-704580 dx.doi.org/10.3389/fped.2021.704580

Directori

Publicacions

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

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

Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

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

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

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

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