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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: seoane p. J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7. J Med Genet. 2023. PMID: 36243518 Free PMC article.
Regulatory variants: from detection to predicting impact.
Rojano E, Seoane P, Ranea JAG, Perkins JR. Rojano E, et al. Among authors: seoane p. Brief Bioinform. 2019 Sep 27;20(5):1639-1654. doi: 10.1093/bib/bby039. Brief Bioinform. 2019. PMID: 29893792 Free PMC article. Review.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Genetic signature detected in T cell receptors from patients with severe COVID-19.
Corpas M, de Mendoza C, Moreno-Torres V, Pintos I, Seoane P, Perkins JR, Ranea JAG, Fatumo S, Korcsmaros T, Martín-Villa JM, Barreiro P, Corral O, Soriano V. Corpas M, et al. Among authors: seoane p. iScience. 2023 Aug 25;26(10):107735. doi: 10.1016/j.isci.2023.107735. eCollection 2023 Oct 20. iScience. 2023. PMID: 37720084 Free PMC article.
59 results