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Page 1
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.
Pérez-Serra A, Toro R, Martinez-Barrios E, Iglesias A, Fernandez-Falgueras A, Alcalde M, Coll M, Puigmulé M, Del Olmo B, Picó F, Lopez L, Arbelo E, Cesar S, Llano CT, Mangas A, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O. Pérez-Serra A, et al. Among authors: puigmule m. Int J Mol Sci. 2024 Mar 29;25(7):3807. doi: 10.3390/ijms25073807. Int J Mol Sci. 2024. PMID: 38612618 Free PMC article.
Genetic characteristics involved in COVID-19 severity. The CARGENCORS case-control study and meta-analysis.
Camps-Vilaró A, Pinsach-Abuin ML, Degano IR, Ramos R, Martí-Lluch R, Elosua R, Subirana I, Solà-Richarte C, Puigmulé M, Pérez A, Vilaró I, Cruz R, Diz-de Almeida S, Nogues X, Masclans JR, Güerri-Fernández R, Marin J, Tizon-Marcos H, Vaquerizo B, Brugada R, Marrugat J. Camps-Vilaró A, et al. Among authors: puigmule m. J Med Virol. 2024 Feb;96(2):e29404. doi: 10.1002/jmv.29404. J Med Virol. 2024. PMID: 38293834
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, Iglesias A, Moll I, Perez-Serra A, Martínez-Barrios E, Ferrer-Costa C, Del Olmo B, Puigmulè M, Alcalde M, Lopez L, Pico F, Berrueco R, Brugada J, Zschaeck I, Natera-de Benito D, Carrera-García L, Exposito-Escudero J, Ortez C, Nascimento A, Brugada R, Sarquella-Brugada G, Campuzano O. Cesar S, et al. Among authors: puigmule m. Front Genet. 2023 Mar 24;14:1135438. doi: 10.3389/fgene.2023.1135438. eCollection 2023. Front Genet. 2023. PMID: 37035729 Free PMC article.
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
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. Martinez-Barrios E, et al. Among authors: puigmule m. Int J Legal Med. 2023 Mar;137(2):345-351. doi: 10.1007/s00414-023-02951-0. Epub 2023 Jan 25. Int J Legal Med. 2023. PMID: 36693943 Free PMC article.
Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
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. Coll M, et al. Among authors: puigmule m. Int J Mol Sci. 2022 Oct 20;23(20):12640. doi: 10.3390/ijms232012640. Int J Mol Sci. 2022. PMID: 36293497 Free PMC article.
Post-mortem toxicology analysis in a young sudden cardiac death cohort.
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. Coll M, et al. Among authors: puigmule m. Forensic Sci Int Genet. 2022 Jul;59:102723. doi: 10.1016/j.fsigen.2022.102723. Epub 2022 May 16. Forensic Sci Int Genet. 2022. PMID: 35640313
Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations.
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. Alcalde M, et al. Among authors: puigmule m. Forensic Sci Int Genet. 2022 May;58:102688. doi: 10.1016/j.fsigen.2022.102688. Epub 2022 Mar 16. Forensic Sci Int Genet. 2022. PMID: 35316720
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
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. Martínez-Barrios E, et al. Among authors: puigmule m. J Pers Med. 2022 Feb 8;12(2):241. doi: 10.3390/jpm12020241. J Pers Med. 2022. PMID: 35207729 Free PMC article.
High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.
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. Puigmulé M, et al. Exp Biol Med (Maywood). 2022 Feb;247(3):276-281. doi: 10.1177/15353702211054768. Epub 2021 Dec 14. Exp Biol Med (Maywood). 2022. PMID: 34903068 Free PMC article.
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
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. Sarquella-Brugada G, et al. Among authors: puigmule m. Hum Genet. 2022 Oct;141(10):1579-1589. doi: 10.1007/s00439-021-02370-4. Epub 2021 Sep 21. Hum Genet. 2022. PMID: 34546463 Free PMC article.
29 results