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267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G. Dopazo J, et al. Among authors: ruiz ferrer m. Mol Biol Evol. 2016 May;33(5):1205-18. doi: 10.1093/molbev/msw005. Epub 2016 Jan 13. Mol Biol Evol. 2016. PMID: 26764160 Free PMC article.
A map of human microRNA variation uncovers unexpectedly high levels of variability.
Carbonell J, Alloza E, Arce P, Borrego S, Santoyo J, Ruiz-Ferrer M, Medina I, Jiménez-Almazán J, Méndez-Vidal C, González-Del Pozo M, Vela A, Bhattacharya SS, Antiñolo G, Dopazo J. Carbonell J, et al. Among authors: ruiz ferrer m. Genome Med. 2012 Aug 24;4(8):62. doi: 10.1186/gm363. eCollection 2012. Genome Med. 2012. PMID: 22906193 Free PMC article.
Hirschsprung's disease as a model of complex genetic etiology.
Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G. Borrego S, et al. Among authors: ruiz ferrer m. Histol Histopathol. 2013 Sep;28(9):1117-36. doi: 10.14670/HH-28.1117. Epub 2013 Apr 19. Histol Histopathol. 2013. PMID: 23605783 Review.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.
Luzón-Toro B, Gui H, Ruiz-Ferrer M, Sze-Man Tang C, Fernández RM, Sham PC, Torroglosa A, Kwong-Hang Tam P, Espino-Paisán L, Cherny SS, Bleda M, Enguix-Riego Mdel V, Dopazo J, Antiñolo G, García-Barceló MM, Borrego S. Luzón-Toro B, et al. Among authors: ruiz ferrer m. Sci Rep. 2015 Nov 12;5:16473. doi: 10.1038/srep16473. Sci Rep. 2015. PMID: 26559152 Free PMC article.
Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.
Luzón-Toro B, Bleda M, Navarro E, García-Alonso L, Ruiz-Ferrer M, Medina I, Martín-Sánchez M, Gonzalez CY, Fernández RM, Torroglosa A, Antiñolo G, Dopazo J, Borrego S. Luzón-Toro B, et al. Among authors: ruiz ferrer m. BMC Med Genomics. 2015 Dec 21;8:83. doi: 10.1186/s12920-015-0160-7. BMC Med Genomics. 2015. PMID: 26690675 Free PMC article.
G534E Variant in HABP2 and Nonmedullary Thyroid Cancer.
Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S. Ruiz-Ferrer M, et al. Thyroid. 2016 Jul;26(7):987-8. doi: 10.1089/thy.2016.0193. Thyroid. 2016. PMID: 27245704 Free PMC article. No abstract available.
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM. Gui H, et al. Among authors: ruiz ferrer m. Genome Biol. 2017 Mar 8;18(1):48. doi: 10.1186/s13059-017-1174-6. Genome Biol. 2017. PMID: 28274275 Free PMC article.
25 results