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

Year Number of Results
1966 1
1969 1
1970 1
1971 1
1972 1
1982 1
1984 4
1985 4
1986 3
1988 5
1989 5
1990 5
1991 6
1992 13
1993 5
1994 4
1996 4
1997 2
1998 4
1999 1
2000 7
2001 6
2002 3
2003 2
2004 6
2005 4
2006 4
2007 4
2008 1
2009 1
2010 2
2011 1
2012 4
2013 1
2014 4
2015 1
2016 3
2017 2
2018 2
2019 4
2020 3
2021 1
2022 2
2023 4
2024 0

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138 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: bentley dr. 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.
The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes.
Pereira B, Chin SF, Rueda OM, Vollan HK, Provenzano E, Bardwell HA, Pugh M, Jones L, Russell R, Sammut SJ, Tsui DW, Liu B, Dawson SJ, Abraham J, Northen H, Peden JF, Mukherjee A, Turashvili G, Green AR, McKinney S, Oloumi A, Shah S, Rosenfeld N, Murphy L, Bentley DR, Ellis IO, Purushotham A, Pinder SE, Børresen-Dale AL, Earl HM, Pharoah PD, Ross MT, Aparicio S, Caldas C. Pereira B, et al. Among authors: bentley dr. Nat Commun. 2016 May 10;7:11479. doi: 10.1038/ncomms11479. Nat Commun. 2016. PMID: 27161491 Free PMC article.
The genomic landscape of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21.
Gao Q, Ryan SL, Iacobucci I, Ghate PS, Cranston RE, Schwab C, Elsayed AH, Shi L, Pounds S, Lei S, Baviskar P, Pei D, Cheng C, Bashton M, Sinclair P, Bentley DR, Ross MT, Kingsbury Z, James T, Roberts KG, Devidas M, Fan Y, Chen W, Chang TC, Wu G, Carroll A, Heerema N, Valentine V, Valentine M, Yang W, Yang JJ, Moorman AV, Harrison CJ, Mullighan CG. Gao Q, et al. Among authors: bentley dr. Blood. 2023 Aug 24;142(8):711-723. doi: 10.1182/blood.2022019094. Blood. 2023. PMID: 37216686
Accurate whole human genome sequencing using reversible terminator chemistry.
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara E Catenazzi M, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV… See abstract for full author list ➔ Bentley DR, et al. Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517. Nature. 2008. PMID: 18987734 Free PMC article.
Whole-genome re-sequencing.
Bentley DR. Bentley DR. Curr Opin Genet Dev. 2006 Dec;16(6):545-52. doi: 10.1016/j.gde.2006.10.009. Epub 2006 Oct 18. Curr Opin Genet Dev. 2006. PMID: 17055251 Review.
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia.
Ryan SL, Peden JF, Kingsbury Z, Schwab CJ, James T, Polonen P, Mijuskovic M, Becq J, Yim R, Cranston RE, Hedges DJ, Roberts KG, Mullighan CG, Vora A, Russell LJ, Bain R, Moorman AV, Bentley DR, Harrison CJ, Ross MT. Ryan SL, et al. Among authors: bentley dr. Leukemia. 2023 Mar;37(3):518-528. doi: 10.1038/s41375-022-01806-8. Epub 2023 Jan 19. Leukemia. 2023. PMID: 36658389 Free PMC article.
The sequences of the human sex chromosomes.
Ross MT, Bentley DR, Tyler-Smith C. Ross MT, et al. Among authors: bentley dr. Curr Opin Genet Dev. 2006 Jun;16(3):213-8. doi: 10.1016/j.gde.2006.04.006. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16650760 Review.
The Human Genome Project--an overview.
Bentley DR. Bentley DR. Med Res Rev. 2000 May;20(3):189-96. doi: 10.1002/(sici)1098-1128(200005)20:3<189::aid-med2>3.0.co;2-#. Med Res Rev. 2000. PMID: 10797463 Review.
Genomes for medicine.
Bentley DR. Bentley DR. Nature. 2004 May 27;429(6990):440-5. doi: 10.1038/nature02622. Nature. 2004. PMID: 15164068
Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data.
Chen X, Shen F, Gonzaludo N, Malhotra A, Rogert C, Taft RJ, Bentley DR, Eberle MA. Chen X, et al. Among authors: bentley dr. Pharmacogenomics J. 2021 Apr;21(2):251-261. doi: 10.1038/s41397-020-00205-5. Epub 2021 Jan 18. Pharmacogenomics J. 2021. PMID: 33462347 Free PMC article.
138 results