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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium; Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:; Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM. Shoemark A, et al. Among authors: bleda m. Eur Respir J. 2022 Nov 17;60(5):2200176. doi: 10.1183/13993003.00176-2022. Print 2022 Nov. Eur Respir J. 2022. PMID: 35728977 Free article.
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.
Fernández RM, Bleda M, Núñez-Torres R, Medina I, Luzón-Toro B, García-Alonso L, Torroglosa A, Marbà M, Enguix-Riego MV, Montaner D, Antiñolo G, Dopazo J, Borrego S. Fernández RM, et al. Among authors: bleda m. Orphanet J Rare Dis. 2012 Dec 28;7:103. doi: 10.1186/1750-1172-7-103. Orphanet J Rare Dis. 2012. PMID: 23270508 Free PMC article.
The pan-cancer pathological regulatory landscape.
Falco MM, Bleda M, Carbonell-Caballero J, Dopazo J. Falco MM, et al. Among authors: bleda m. Sci Rep. 2016 Dec 21;6:39709. doi: 10.1038/srep39709. Sci Rep. 2016. PMID: 28000771 Free PMC article.
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: bleda 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.
Genome Maps, a new generation genome browser.
Medina I, Salavert F, Sanchez R, de Maria A, Alonso R, Escobar P, Bleda M, Dopazo J. Medina I, et al. Among authors: bleda m. Nucleic Acids Res. 2013 Jul;41(Web Server issue):W41-6. doi: 10.1093/nar/gkt530. Epub 2013 Jun 8. Nucleic Acids Res. 2013. PMID: 23748955 Free PMC article.
Web-based network analysis and visualization using CellMaps.
Salavert F, García-Alonso L, Sánchez R, Alonso R, Bleda M, Medina I, Dopazo J. Salavert F, et al. Among authors: bleda m. Bioinformatics. 2016 Oct 1;32(19):3041-3. doi: 10.1093/bioinformatics/btw332. Epub 2016 Jun 13. Bioinformatics. 2016. PMID: 27296979 Free PMC article.
Pathways systematically associated to Hirschsprung's disease.
Fernández RM, Bleda M, Luzón-Toro B, García-Alonso L, Arnold S, Sribudiani Y, Besmond C, Lantieri F, Doan B, Ceccherini I, Lyonnet S, Hofstra RM, Chakravarti A, Antiñolo G, Dopazo J, Borrego S. Fernández RM, et al. Among authors: bleda m. Orphanet J Rare Dis. 2013 Dec 2;8:187. doi: 10.1186/1750-1172-8-187. Orphanet J Rare Dis. 2013. PMID: 24289864 Free PMC article.
153 results