Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

151 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.
Schwab C, Cranston RE, Ryan SL, Butler E, Winterman E, Hawking Z, Bashton M, Enshaei A, Russell LJ, Kingsbury Z, Peden JF, Barretta E, Murray J, Gibson J, Hinchliffe AC, Bain R, Vora A, Bentley DR, Ross MT, Moorman AV, Harrison CJ. Schwab C, et al. Among authors: bentley dr. Leukemia. 2023 Mar;37(3):529-538. doi: 10.1038/s41375-022-01799-4. Epub 2022 Dec 22. Leukemia. 2023. PMID: 36550215 Free PMC article.
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 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
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A, Ambrose J, Cross W, Turnbull C, Henderson S, Jones L, Hamblin A, Arumugam P, Chan G, Chubb D, Noyvert B, Mitchell J, Walker S, Bowman K, Pasko D, Buongermino Pereira M, Volkova N, Rueda-Martin A, Perez-Gil D, Lopez J, Pullinger J, Siddiq A, Zainy T, Choudhury T, Yavorska O, Fowler T, Bentley D, Kingsley C, Hing S, Deans Z, Rendon A, Hill S, Caulfield M, Murugaesu N. Sosinsky A, et al. Nat Med. 2024 Jan;30(1):279-289. doi: 10.1038/s41591-023-02682-0. Epub 2024 Jan 11. Nat Med. 2024. PMID: 38200255 Free PMC article.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ. Clause AR, et al. Among authors: bentley dr. Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819666 Free PMC article.
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.
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.
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC, Bahlo M, Eberle MA. Dolzhenko E, et al. Among authors: bentley dr. Genome Biol. 2020 Apr 28;21(1):102. doi: 10.1186/s13059-020-02017-z. Genome Biol. 2020. PMID: 32345345 Free PMC article.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ; NIHR BioResource; Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Chen X, et al. Among authors: bentley dr. Genet Med. 2020 May;22(5):945-953. doi: 10.1038/s41436-020-0754-0. Epub 2020 Feb 18. Genet Med. 2020. PMID: 32066871 Free PMC article.
151 results