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2011 1
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2014 3
2015 6
2016 9
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2024 1

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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. Int J Mol Sci. 2024 Mar 29;25(7):3807. doi: 10.3390/ijms25073807. Int J Mol Sci. 2024. PMID: 38612618 Free PMC article.
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group. Castro-Santos P, et al. HLA. 2023 Dec;102(6):731-739. doi: 10.1111/tan.15160. Epub 2023 Aug 1. HLA. 2023. PMID: 37528566
Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 Jul;619(7971):E61. doi: 10.1038/s41586-023-06383-z. Nature. 2023. PMID: 37433877 Free PMC article. No abstract available.
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. Pairo-Castineira E, et al. Nature. 2023 May;617(7962):764-768. doi: 10.1038/s41586-023-06034-3. Epub 2023 May 17. Nature. 2023. PMID: 37198478 Free PMC article.
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: perez serra a. 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: perez serra a. 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: perez serra a. Int J Mol Sci. 2022 Oct 20;23(20):12640. doi: 10.3390/ijms232012640. Int J Mol Sci. 2022. PMID: 36293497 Free PMC article.
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
Oliva A, Grassi S, Pinchi V, Cazzato F, Coll M, Alcalde M, Vallverdú-Prats M, Perez-Serra A, Martínez-Barrios E, Cesar S, Iglesias A, Cruzalegui J, Hernández C, Fiol V, Arbelo E, Díez-Escuté N, Arena V, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O. Oliva A, et al. Among authors: perez serra a. J Clin Med. 2022 Jul 28;11(15):4406. doi: 10.3390/jcm11154406. J Clin Med. 2022. PMID: 35956023 Free PMC article. Review.
A microRNA Signature for the Diagnosis of Statins Intolerance.
Mangas A, Pérez-Serra A, Bonet F, Muñiz O, Fuentes F, Gonzalez-Estrada A, Campuzano O, Rodriguez Roca JS, Alonso-Villa E, Toro R. Mangas A, et al. Among authors: perez serra a. Int J Mol Sci. 2022 Jul 24;23(15):8146. doi: 10.3390/ijms23158146. Int J Mol Sci. 2022. PMID: 35897722 Free PMC article.
55 results