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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: rendon a. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function.
Soranzo N, Rendon A, Gieger C, Jones CI, Watkins NA, Menzel S, Döring A, Stephens J, Prokisch H, Erber W, Potter SC, Bray SL, Burns P, Jolley J, Falchi M, Kühnel B, Erdmann J, Schunkert H, Samani NJ, Illig T, Garner SF, Rankin A, Meisinger C, Bradley JR, Thein SL, Goodall AH, Spector TD, Deloukas P, Ouwehand WH. Soranzo N, et al. Among authors: rendon a. Blood. 2009 Apr 16;113(16):3831-7. doi: 10.1182/blood-2008-10-184234. Epub 2009 Feb 12. Blood. 2009. PMID: 19221038 Free PMC article.
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, Elosua R, Epstein SE, Erber W, Falchi M, Garner SF, Ghori MJ, Goodall AH, Gwilliam R, Hakonarson HH, Hall AS, Hammond N, Hengstenberg C, Illig T, König IR, Knouff CW, McPherson R, Melander O, Mooser V, Nauck M, Nieminen MS, O'Donnell CJ, Peltonen L, Potter SC, Prokisch H, Rader DJ, Rice CM, Roberts R, Salomaa V, Sambrook J, Schreiber S, Schunkert H, Schwartz SM, Serbanovic-Canic J, Sinisalo J, Siscovick DS, Stark K, Surakka I, Stephens J, Thompson JR, Völker U, Völzke H, Watkins NA, Wells GA, Wichmann HE, Van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, Perola M, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. Soranzo N, et al. Among authors: rendon a. Nat Genet. 2009 Nov;41(11):1182-90. doi: 10.1038/ng.467. Epub 2009 Oct 11. Nat Genet. 2009. PMID: 19820697 Free PMC article.
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Ganesh SK, Zakai NA, van Rooij FJ, Soranzo N, Smith AV, Nalls MA, Chen MH, Kottgen A, Glazer NL, Dehghan A, Kuhnel B, Aspelund T, Yang Q, Tanaka T, Jaffe A, Bis JC, Verwoert GC, Teumer A, Fox CS, Guralnik JM, Ehret GB, Rice K, Felix JF, Rendon A, Eiriksdottir G, Levy D, Patel KV, Boerwinkle E, Rotter JI, Hofman A, Sambrook JG, Hernandez DG, Zheng G, Bandinelli S, Singleton AB, Coresh J, Lumley T, Uitterlinden AG, Vangils JM, Launer LJ, Cupples LA, Oostra BA, Zwaginga JJ, Ouwehand WH, Thein SL, Meisinger C, Deloukas P, Nauck M, Spector TD, Gieger C, Gudnason V, van Duijn CM, Psaty BM, Ferrucci L, Chakravarti A, Greinacher A, O'Donnell CJ, Witteman JC, Furth S, Cushman M, Harris TB, Lin JP. Ganesh SK, et al. Among authors: rendon a. Nat Genet. 2009 Nov;41(11):1191-8. doi: 10.1038/ng.466. Epub 2009 Oct 11. Nat Genet. 2009. PMID: 19862010 Free PMC article.
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.
Paul DS, Nisbet JP, Yang TP, Meacham S, Rendon A, Hautaviita K, Tallila J, White J, Tijssen MR, Sivapalaratnam S, Basart H, Trip MD; Cardiogenics Consortium; MuTHER Consortium; Göttgens B, Soranzo N, Ouwehand WH, Deloukas P. Paul DS, et al. Among authors: rendon a. PLoS Genet. 2011 Jun;7(6):e1002139. doi: 10.1371/journal.pgen.1002139. Epub 2011 Jun 30. PLoS Genet. 2011. PMID: 21738486 Free PMC article.
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome.
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, Read RJ, Sipos B, Sivapalaratnam S, Smethurst PA, Stephens J, Voss K, Nurden A, Rendon A, Nurden P, Ouwehand WH. Albers CA, et al. Among authors: rendon a. Nat Genet. 2011 Jul 17;43(8):735-7. doi: 10.1038/ng.885. Nat Genet. 2011. PMID: 21765411 Free PMC article.
Monocyte gene expression signature of patients with early onset coronary artery disease.
Sivapalaratnam S, Basart H, Watkins NA, Maiwald S, Rendon A, Krishnan U, Sondermeijer BM, Creemers EE, Pinto-Sietsma SJ, Hovingh K, Ouwehand WH, Kastelein JJ, Goodall AH, Trip MD. Sivapalaratnam S, et al. Among authors: rendon a. PLoS One. 2012;7(2):e32166. doi: 10.1371/journal.pone.0032166. Epub 2012 Feb 21. PLoS One. 2012. PMID: 22363809 Free PMC article. Clinical Trial.
Comparison of methods for competitive tests of pathway analysis.
Evangelou M, Rendon A, Ouwehand WH, Wernisch L, Dudbridge F. Evangelou M, et al. Among authors: rendon a. PLoS One. 2012;7(7):e41018. doi: 10.1371/journal.pone.0041018. Epub 2012 Jul 31. PLoS One. 2012. PMID: 22859961 Free PMC article.
SMIM1 underlies the Vel blood group and influences red blood cell traits.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, Fehrmann RS, Gray A, de Haas M, Haver VG, Jordan G, Karjalainen J, Kerstens HH, Kiddle G, Lloyd-Jones H, Needs M, Poole J, Soussan AA, Rendon A, Rieneck K, Sambrook JG, Schepers H, Silljé HHW, Sipos B, Swinkels D, Tamuri AU, Verweij N, Watkins NA, Westra HJ, Stemple D, Franke L, Soranzo N, Stunnenberg HG, Goldman N, van der Harst P, van der Schoot CE, Ouwehand WH, Albers CA. Cvejic A, et al. Among authors: rendon a. Nat Genet. 2013 May;45(5):542-545. doi: 10.1038/ng.2603. Epub 2013 Apr 7. Nat Genet. 2013. PMID: 23563608 Free PMC article.
407 results