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

Year Number of Results
1989 1
1991 1
1994 1
1996 1
1997 2
1998 1
1999 1
2000 4
2001 2
2002 1
2003 1
2004 5
2005 4
2006 4
2008 3
2009 6
2010 4
2011 5
2012 5
2013 8
2014 9
2015 7
2016 9
2017 8
2018 3
2019 3
2020 7
2021 5
2022 4
2023 9
2024 4

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117 results

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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: mumford ad. 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.
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource; Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K. Downes K, et al. Among authors: mumford ad. Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192. Blood. 2019. PMID: 31064749 Free PMC article.
How I diagnose and treat neonatal thrombocytopenia.
Stanworth SJ, Mumford AD. Stanworth SJ, et al. Among authors: mumford ad. Blood. 2023 Jun 1;141(22):2685-2697. doi: 10.1182/blood.2022018017. Blood. 2023. PMID: 36787503 Free article. Review.
Purpura fulminans: recognition, diagnosis and management.
Chalmers E, Cooper P, Forman K, Grimley C, Khair K, Minford A, Morgan M, Mumford AD. Chalmers E, et al. Among authors: mumford ad. Arch Dis Child. 2011 Nov;96(11):1066-71. doi: 10.1136/adc.2010.199919. Epub 2011 Jan 12. Arch Dis Child. 2011. PMID: 21233082 Review.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: mumford ad. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
Guidelines for the use of platelet transfusions.
Estcourt LJ, Birchall J, Allard S, Bassey SJ, Hersey P, Kerr JP, Mumford AD, Stanworth SJ, Tinegate H; British Committee for Standards in Haematology. Estcourt LJ, et al. Among authors: mumford ad. Br J Haematol. 2017 Feb;176(3):365-394. doi: 10.1111/bjh.14423. Epub 2016 Dec 23. Br J Haematol. 2017. PMID: 28009056 Free article. No abstract available.
Pseudohomozygous dysfibrinogenemia.
Peck RC, Fitzgibbon L, Reilly-Stitt C, Doherty C, Phillips E, Mumford AD. Peck RC, et al. Among authors: mumford ad. Res Pract Thromb Haemost. 2021 Aug 21;5(6):e12568. doi: 10.1002/rth2.12568. eCollection 2021 Aug. Res Pract Thromb Haemost. 2021. PMID: 34458664 Free PMC article.
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L, Collins J, Sims MC, Barrio-Hernandez I, Sun L, Burren OS, Perfetto L, Bender I, Callahan TJ, Fleming K, Guerrero JA, Hermjakob H, Martin MJ, Stephenson J, Paneerselvam K, Petrovski S, Porras P, Robinson PN, Wang Q, Watkins X, Frontini M, Laskowski RA, Beltrao P, Di Angelantonio E, Gomez K, Laffan M, Ouwehand WH, Mumford AD, Freson K, Carss K, Downes K, Gleadall N, Megy K, Bruford E, Vuckovic D. Stefanucci L, et al. Among authors: mumford ad. Blood. 2023 Dec 14;142(24):2055-2068. doi: 10.1182/blood.2023020118. Blood. 2023. PMID: 37647632 Free PMC article.
ACTN1 variants associated with thrombocytopenia.
Westbury SK, Shoemark DK, Mumford AD. Westbury SK, et al. Among authors: mumford ad. 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. Among authors: mumford ad. 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.
117 results