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

Year Number of Results
1983 1
1984 2
1985 2
1986 1
1989 1
1990 1
1991 4
1992 5
1993 2
1994 3
1995 4
1996 2
1997 2
1999 4
2000 1
2001 1
2002 3
2003 2
2004 2
2005 4
2006 1
2007 1
2008 2
2009 1
2010 5
2011 1
2012 2
2013 4
2014 1
2015 1
2016 3
2017 2
2018 1
2019 5
2020 3
2021 2
2022 4
2023 1
2024 0

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80 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.
Sotos Syndrome.
Tatton-Brown K, Cole TRP, Rahman N. Tatton-Brown K, et al. Among authors: cole trp. 2004 Dec 17 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Dec 17 [updated 2022 Dec 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301652 Free Books & Documents. 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.
Grandma.
Cole TR. Cole TR. Gerontologist. 2016 Feb;56(1):155-7. doi: 10.1093/geront/gnv681. Gerontologist. 2016. PMID: 26767776 Review. No abstract available.
Sotos syndrome.
Cole TR, Hughes HE. Cole TR, et al. J Med Genet. 1990 Sep;27(9):571-6. doi: 10.1136/jmg.27.9.571. J Med Genet. 1990. PMID: 2231650 Free PMC article. No abstract available.
Weaver syndrome.
Cole TR, Dennis NR, Hughes HE. Cole TR, et al. J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332. J Med Genet. 1992. PMID: 1583661 Free PMC article. No abstract available.
Ethical challenges in invasive maternal-fetal intervention.
Austin MT, Cole TR, McCullough LB, Chervenak FA. Austin MT, et al. Among authors: cole tr. Semin Pediatr Surg. 2019 Aug;28(4):150819. doi: 10.1053/j.sempedsurg.2019.07.002. Epub 2019 Jul 18. Semin Pediatr Surg. 2019. PMID: 31451174
Risk of malignancy in Sotos syndrome.
Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE. Hersh JH, et al. Among authors: cole tr. J Pediatr. 1992 Apr;120(4 Pt 1):572-4. doi: 10.1016/s0022-3476(10)80004-6. J Pediatr. 1992. PMID: 1552397 Review.
Inside aging masculinities and gerontological careers.
Katz S, Achenbaum WA, Cole TR, de Vries B. Katz S, et al. Among authors: cole tr. J Aging Stud. 2022 Dec;63:101032. doi: 10.1016/j.jaging.2022.101032. Epub 2022 May 25. J Aging Stud. 2022. PMID: 36462928
The suffering of physicians.
Cole TR, Carlin N. Cole TR, et al. Lancet. 2009 Oct 24;374(9699):1414-5. doi: 10.1016/s0140-6736(09)61851-1. Lancet. 2009. PMID: 19866520 No abstract available.
80 results