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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.
Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Among authors: westbury sk. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.
Genomics of platelet disorders.
Westbury SK, Mumford AD. Westbury SK, et al. Haemophilia. 2016 Jul;22 Suppl 5:20-4. doi: 10.1111/hae.12964. Haemophilia. 2016. PMID: 27405671 Review.
Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Burley K, Whyte CS, Westbury SK, Walker M, Stirrups KE, Turro E; NIHR BioResource; Chapman OG, Reilly-Stitt C, Mutch NJ, Mumford AD. Burley K, et al. Among authors: westbury sk. Blood. 2016 Oct 6;128(14):1879-1883. doi: 10.1182/blood-2016-05-716092. Epub 2016 Jul 19. Blood. 2016. PMID: 27436851 Free PMC article.
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.
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: westbury sk. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium; Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium; Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Arno G, et al. Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132693 Free PMC article.
44 results