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2002 1
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49 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Three-year outcomes of valoctocogene roxaparvovec gene therapy for hemophilia A.
Madan B, Ozelo MC, Raheja P, Symington E, Quon DV, Leavitt AD, Pipe SW, Lowe G, Kenet G, Reding MT, Mason J, Wang M, von Drygalski A, Klamroth R, Shapiro S, Chambost H, Dunn AL, Oldenburg J, Chou SC, Peyvandi F, Millar CM, Osmond D, Yu H, Dashiell-Aje E, Robinson TM, Mahlangu J. Madan B, et al. Among authors: millar cm. J Thromb Haemost. 2024 Jul;22(7):1880-1893. doi: 10.1016/j.jtha.2024.04.001. Epub 2024 Apr 12. J Thromb Haemost. 2024. PMID: 38614387 Free article. Clinical Trial.
Haemostatic disorders in pregnancy.
Agarwala R, Millar CM, Campbell JP. Agarwala R, et al. Among authors: millar cm. BJA Educ. 2020 May;20(5):150-157. doi: 10.1016/j.bjae.2020.02.002. Epub 2020 Mar 18. BJA Educ. 2020. PMID: 33456944 Free PMC article. Review. No abstract available.
The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.
Laffan MA, Lester W, O'Donnell JS, Will A, Tait RC, Goodeve A, Millar CM, Keeling DM. Laffan MA, et al. Among authors: millar cm. Br J Haematol. 2014 Nov;167(4):453-65. doi: 10.1111/bjh.13064. Epub 2014 Aug 12. Br J Haematol. 2014. PMID: 25113304 Free PMC article. Review. No abstract available.
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.
Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Joyce KE, et al. Among authors: millar cm. Blood Adv. 2022 Jul 12;6(13):3956-3969. doi: 10.1182/bloodadvances.2022007136. Blood Adv. 2022. PMID: 35316832 Free PMC article.
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I. Bury L, et al. Among authors: millar cm. Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15. Hum Mutat. 2020. PMID: 31562665 Free PMC article.
49 results