Rojano E - Search Results

1

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: rojano e. Hum Genet. 2021 Mar;140(3):457-475. doi: 10.1007/s00439-020-02214-7. Epub 2020 Aug 10. Hum Genet. 2021. PMID: 32778951

2

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.

Bueno A, Rodríguez-López R, Reyes-Palomares A, Rojano E, Corpas M, Nevado J, Lapunzina P, Sánchez-Jiménez F, Ranea JAG. Bueno A, et al. Among authors: rojano e. Eur J Hum Genet. 2018 Oct;26(10):1451-1461. doi: 10.1038/s41431-018-0139-x. Epub 2018 Jun 26. Eur J Hum Genet. 2018. PMID: 29946186 Free PMC article.

3

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: rojano e. 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.

4

Characterisation of non-coding genetic variation in histamine receptors using AnNCR-SNP.

Rojano E, Ranea JA, Perkins JR. Rojano E, et al. Amino Acids. 2016 Oct;48(10):2433-42. doi: 10.1007/s00726-016-2265-5. Epub 2016 Jun 6. Amino Acids. 2016. PMID: 27270572

5

Regulatory variants: from detection to predicting impact.

Rojano E, Seoane P, Ranea JAG, Perkins JR. Rojano E, et al. Brief Bioinform. 2019 Sep 27;20(5):1639-1654. doi: 10.1093/bib/bby039. Brief Bioinform. 2019. PMID: 29893792 Free PMC article. Review.

6

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: rojano e. Sci Rep. 2021 Jul 23;11(1):15062. doi: 10.1038/s41598-021-94343-w. Sci Rep. 2021. PMID: 34301987 Free PMC article.

7

Assigning protein function from domain-function associations using DomFun.

Rojano E, Jabato FM, Perkins JR, Córdoba-Caballero J, García-Criado F, Sillitoe I, Orengo C, Ranea JAG, Seoane-Zonjic P. Rojano E, et al. BMC Bioinformatics. 2022 Jan 15;23(1):43. doi: 10.1186/s12859-022-04565-6. BMC Bioinformatics. 2022. PMID: 35033002 Free PMC article.

8

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: rojano e. Brief Bioinform. 2022 Jul 18;23(4):bbac220. doi: 10.1093/bib/bbac220. Brief Bioinform. 2022. PMID: 35731990 Free PMC article.

9

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.

Rojano E, Córdoba-Caballero J, Jabato FM, Gallego D, Serrano M, Pérez B, Parés-Aguilar Á, Perkins JR, Ranea JAG, Seoane-Zonjic P. Rojano E, et al. J Pers Med. 2021 Jul 27;11(8):730. doi: 10.3390/jpm11080730. J Pers Med. 2021. PMID: 34442375 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: rojano e. 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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