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MARTA PUIGMULE RAURICH

Firma
MARTA PUIGMULE-RAURICH
Position
Investigador/a Post-doctoral – R2
Postdoctoral Researchers – R2

Projectes

Codi oficial: 2021 LLAV 00073 Start date:11/10/2022 Data fi: 10/07/2023 Investigador/a principal: RAMON BRUGADA TERRADELLAS Organisme finançador: AGENCIA DE GESTIO D'AJUTS UNIV. I RECER. Ajuda: 20,000 €

Publicacions

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

Puigmulé M, Coll M, Pérez-Serra A, López L, Picó F, Neto N, Corona M, Pinsach-Abuin ML, Ferrer-Costa C, Buxó M, Queralt FX, Brugada R

High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP

EXPERIMENTAL BIOLOGY AND MEDICINE, 2022, 247, 276-281 dx.doi.org/10.1177/15353702211054768

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

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
0

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

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

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

Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol V, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2020, 47, 102281-102281 dx.doi.org/10.1016/j.fsigen.2020.102281

Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Arbelo E, García-Álvarez A, Jordà P, Coll M, Fiol V, Iglesias A, Perez-Serra A, Mates J, Del Olmo B, Ferrer C, Alcalde M, Puigmulé M, Mademont-Soler I, Pico F, Lopez L, Tiron C, Brugada J, Brugada R

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

Frontiers in Genetics, 2019, 10, 450-450 dx.doi.org/10.3389/fgene.2019.00450

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