Seoane P - Search Results

1

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.

Díaz-Santiago E, Jabato FM, Rojano E, Seoane P, Pazos F, Perkins JR, Ranea JAG. Díaz-Santiago E, et al. Among authors: seoane p. PLoS Genet. 2020 Oct 1;16(10):e1009054. doi: 10.1371/journal.pgen.1009054. eCollection 2020 Oct. PLoS Genet. 2020. PMID: 33001999 Free PMC article.

2

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.

3

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.

Jabato FM, Seoane P, Perkins JR, Rojano E, García Moreno A, Chagoyen M, Pazos F, Ranea JAG. Jabato FM, et al. Among authors: seoane p. Hum Genet. 2021 Mar;140(3):457-475. doi: 10.1007/s00439-020-02214-7. Epub 2020 Aug 10. Hum Genet. 2021. PMID: 32778951

4

An improved de novo assembling and polishing of Solea senegalensis transcriptome shed light on retinoic acid signalling in larvae.

Córdoba-Caballero J, Seoane P, Jabato FM, Perkins JR, Manchado M, Claros MG. Córdoba-Caballero J, et al. Among authors: seoane p. Sci Rep. 2020 Nov 26;10(1):20654. doi: 10.1038/s41598-020-77201-z. Sci Rep. 2020. PMID: 33244091 Free PMC article.

5

Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite.

Jabato FM, Córdoba-Caballero J, Rojano E, Romá-Mateo C, Sanz P, Pérez B, Gallego D, Seoane P, Ranea JAG, Perkins JR. Jabato FM, et al. Among authors: seoane p. Sci Rep. 2021 Jul 23;11(1):15062. doi: 10.1038/s41598-021-94343-w. Sci Rep. 2021. PMID: 34301987 Free PMC article.

6

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.

7

Transcriptional changes in dendritic cells underlying allergen specific induced tolerance in a mouse model.

Nuñez R, Rodriguez MJ, Palomares F, Gomez F, Jabato FM, Cordoba-Caballero J, Seoane P, Losada J, Rojo J, Torres MJ, Perkins JR, Mayorga C. Nuñez R, et al. Among authors: seoane p. Sci Rep. 2022 Feb 18;12(1):2797. doi: 10.1038/s41598-022-06186-8. Sci Rep. 2022. PMID: 35181694 Free PMC article.

8

CoMent: Relationships Between Biomedical Concepts Inferred From the Scientific Literature.

Pazos F, Chagoyen M, Seoane P, Ranea JAG. Pazos F, et al. Among authors: seoane p. J Mol Biol. 2022 Jun 15;434(11):167568. doi: 10.1016/j.jmb.2022.167568. Epub 2022 Mar 30. J Mol Biol. 2022. PMID: 35662459 Free article.

9

Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis.

Pagano-Márquez R, Córdoba-Caballero J, Martínez-Poveda B, Quesada AR, Rojano E, Seoane P, Ranea JAG, Ángel Medina M. Pagano-Márquez R, et al. Among authors: seoane p. Brief Bioinform. 2022 Jul 18;23(4):bbac220. doi: 10.1093/bib/bbac220. Brief Bioinform. 2022. PMID: 35731990 Free PMC article.

10

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.

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