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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2014 2
2015 2
2016 8
2017 8
2018 3
2020 1
2024 0

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22 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.
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.
ACTN1 variants associated with thrombocytopenia.
Westbury SK, Shoemark DK, Mumford AD. Westbury SK, et al. Platelets. 2017 Sep;28(6):625-627. doi: 10.1080/09537104.2017.1356455. Epub 2017 Aug 31. Platelets. 2017. PMID: 28856919 Review. No abstract available.
TUBB1 variants and human platelet traits.
Burley K, Westbury SK, Mumford AD. Burley K, et al. Platelets. 2018 Mar;29(2):209-211. doi: 10.1080/09537104.2017.1411587. Epub 2018 Jan 15. Platelets. 2018. PMID: 29333906 Review. No abstract available.
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. 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.
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium; Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD. Westbury SK, et al. Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21. Blood. 2017. PMID: 28637664 Free PMC article.
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.
Pleines I, Woods J, Chappaz S, Kew V, Foad N, Ballester-Beltrán J, Aurbach K, Lincetto C, Lane RM, Schevzov G, Alexander WS, Hilton DJ, Astle WJ, Downes K, Nurden P, Westbury SK, Mumford AD, Obaji SG, Collins PW, Delerue F, Ittner LM, Bryce NS, Holliday M, Lucas CA, Hardeman EC, Ouwehand WH, Gunning PW, Turro E, Tijssen MR, Kile BT. Pleines I, et al. J Clin Invest. 2017 Mar 1;127(3):814-829. doi: 10.1172/JCI86154. Epub 2017 Jan 30. J Clin Invest. 2017. PMID: 28134622 Free PMC article.
A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency.
Westbury SK, Whyte CS, Stephens J, Downes K, Turro E, Claesen K, Mertens JC, Hendriks D, Latif AL, Leishman EJ; NIHR BioResource; Mutch NJ, Tait RC, Mumford AD. Westbury SK, et al. J Thromb Haemost. 2020 Sep;18(9):2209-2214. doi: 10.1111/jth.14990. Epub 2020 Jul 23. J Thromb Haemost. 2020. PMID: 32634856 Free article.
22 results