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

Year Number of Results
1979 1
1981 1
1988 1
1989 3
1990 1
1991 5
1992 1
1993 1
1995 1
1997 4
1998 2
1999 5
2000 2
2001 3
2002 5
2003 3
2004 1
2005 2
2006 6
2007 6
2008 8
2009 3
2010 9
2011 6
2012 8
2013 13
2014 9
2015 6
2016 4
2017 7
2018 7
2019 5
2020 7
2022 6
2023 6
2024 2

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147 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: aitman tj. 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.
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.
Redefining precision radiotherapy through liquid biopsy.
McLaren DB, Aitman TJ. McLaren DB, et al. Among authors: aitman tj. Br J Cancer. 2023 Oct;129(6):900-903. doi: 10.1038/s41416-023-02398-5. Epub 2023 Aug 19. Br J Cancer. 2023. PMID: 37598284 Free PMC article. Review.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. Among authors: aitman tj. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free article.
Inherited Thoracic Aortic Disease: New Insights and Translational Targets.
Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL. Fletcher AJ, et al. Among authors: aitman tj. Circulation. 2020 May 12;141(19):1570-1587. doi: 10.1161/CIRCULATIONAHA.119.043756. Epub 2020 May 11. Circulation. 2020. PMID: 32392100 Free PMC article. Review.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: aitman tj. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
DNA microarrays in medical practice.
Aitman TJ. Aitman TJ. BMJ. 2001 Sep 15;323(7313):611-5. doi: 10.1136/bmj.323.7313.611. BMJ. 2001. PMID: 11557712 Free PMC article. Review. No abstract available.
Finding genes that underlie complex traits.
Glazier AM, Nadeau JH, Aitman TJ. Glazier AM, et al. Among authors: aitman tj. Science. 2002 Dec 20;298(5602):2345-9. doi: 10.1126/science.1076641. Science. 2002. PMID: 12493905 Review.
The future of model organisms in human disease research.
Aitman TJ, Boone C, Churchill GA, Hengartner MO, Mackay TF, Stemple DL. Aitman TJ, et al. Nat Rev Genet. 2011 Jul 18;12(8):575-82. doi: 10.1038/nrg3047. Nat Rev Genet. 2011. PMID: 21765459 Review.
Molecular genetics of diabetes mellitus.
Aitman TJ, Todd JA. Aitman TJ, et al. Baillieres Clin Endocrinol Metab. 1995 Jul;9(3):631-56. doi: 10.1016/s0950-351x(95)80655-5. Baillieres Clin Endocrinol Metab. 1995. PMID: 7575335 Review.
147 results