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Year Number of Results
1970 1
1975 2
1976 1
1977 1
1983 1
1985 2
1986 2
1987 5
1988 3
1989 2
1990 4
1991 6
1992 7
1993 3
1994 5
1995 9
1996 3
1997 5
1998 6
1999 2
2000 4
2001 3
2002 5
2003 5
2004 10
2005 3
2006 8
2007 7
2008 3
2009 10
2010 9
2011 8
2012 13
2013 10
2014 9
2015 14
2016 15
2017 13
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2019 6
2020 8
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2022 16
2023 8
2024 7

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254 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. 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.
Acquired hemophilia A: Updated review of evidence and treatment guidance.
Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, Tiede A, Kessler CM. Kruse-Jarres R, et al. Among authors: collins pw. Am J Hematol. 2017 Jul;92(7):695-705. doi: 10.1002/ajh.24777. Epub 2017 Jun 5. Am J Hematol. 2017. PMID: 28470674 Free article. Review.
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.
Acute obstetric coagulopathy during postpartum hemorrhage is caused by hyperfibrinolysis and dysfibrinogenemia: an observational cohort study.
de Lloyd L, Jenkins PV, Bell SF, Mutch NJ, Martins Pereira JF, Badenes PM, James D, Ridgeway A, Cohen L, Roberts T, Field V, Collis RE, Collins PW. de Lloyd L, et al. Among authors: collins pw. J Thromb Haemost. 2023 Apr;21(4):862-879. doi: 10.1016/j.jtha.2022.11.036. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36696216 Free article.
Haemostatic management of obstetric haemorrhage.
Collis RE, Collins PW. Collis RE, et al. Among authors: collins pw. Anaesthesia. 2015 Jan;70 Suppl 1:78-86, e27-8. doi: 10.1111/anae.12913. Anaesthesia. 2015. PMID: 25440400 Free article. Review.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Management of acquired haemophilia A.
Collins PW. Collins PW. J Thromb Haemost. 2011 Jul;9 Suppl 1:226-35. doi: 10.1111/j.1538-7836.2011.04309.x. J Thromb Haemost. 2011. PMID: 21781259 Free article. Review.
254 results