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

Year Number of Results
1970 1
1975 2
1976 2
1977 1
1986 1
1988 1
1989 1
1990 1
1991 1
1993 1
1994 2
1995 2
1996 1
1997 1
1999 2
2000 4
2001 5
2002 6
2003 10
2004 25
2005 14
2006 20
2007 12
2008 9
2009 23
2010 28
2011 9
2012 9
2013 20
2014 21
2015 15
2016 16
2017 12
2018 10
2019 11
2020 13
2021 13
2022 8
2023 6
2024 7

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301 results

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Page 1
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: mcmullan d. 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.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Lord J, et al. Among authors: mcmullan dj. Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712880 Free PMC article.
The effect of intermittent energy and carbohydrate restriction v. daily energy restriction on weight loss and metabolic disease risk markers in overweight women.
Harvie M, Wright C, Pegington M, McMullan D, Mitchell E, Martin B, Cutler RG, Evans G, Whiteside S, Maudsley S, Camandola S, Wang R, Carlson OD, Egan JM, Mattson MP, Howell A. Harvie M, et al. Among authors: mcmullan d. Br J Nutr. 2013 Oct;110(8):1534-47. doi: 10.1017/S0007114513000792. Epub 2013 Apr 16. Br J Nutr. 2013. PMID: 23591120 Free PMC article. Clinical Trial.
Extracorporeal cardiopulmonary resuscitation.
Yam N, McMullan DM. Yam N, et al. Among authors: mcmullan dm. Ann Transl Med. 2017 Feb;5(4):72. doi: 10.21037/atm.2017.01.11. Ann Transl Med. 2017. PMID: 28275617 Free PMC article. Review.
Extracorporeal Life Support for Pediatric Heart Failure.
Burke CR, McMullan DM. Burke CR, et al. Among authors: mcmullan dm. Front Pediatr. 2016 Oct 20;4:115. doi: 10.3389/fped.2016.00115. eCollection 2016. Front Pediatr. 2016. PMID: 27812522 Free PMC article. Review.
Pulmonary carcinoid tumors.
McMullan DM, Wood DE. McMullan DM, et al. Semin Thorac Cardiovasc Surg. 2003 Jul;15(3):289-300. doi: 10.1016/s1043-0679(03)70009-4. Semin Thorac Cardiovasc Surg. 2003. PMID: 12973707 Review.
Embryology and anatomy of intrapulmonary shunts.
McMullan DM, Riemer RK. McMullan DM, et al. Echocardiography. 2015 Feb;32 Suppl 3:S190-4. doi: 10.1111/echo.12888. Echocardiography. 2015. PMID: 25693623 Review.
301 results