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 Custom Filters

Results by year

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

Year Number of Results
2008 1
2009 1
2010 3
2011 4
2012 6
2013 7
2014 4
2015 8
2016 1
2017 4
2018 3
2020 3
2021 1
2022 2
2023 4
2024 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

49 results

Results by year

Filters applied: . Clear all
Page 1
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 1000 Genomes Project Consortium, et al. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Nature. 2010. PMID: 20981092 Free PMC article.
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, Johns… See abstract for full author list ➔ Bentley DR, et al. Among authors: kingsbury z. Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517. Nature. 2008. PMID: 18987734 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: kingsbury z. Blood. 2023 Aug 24;142(8):711-723. doi: 10.1182/blood.2022019094. Blood. 2023. PMID: 37216686 Free PMC article.
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
Palles C, Cazier JB, Howarth KM, Domingo E, Jones AM, Broderick P, Kemp Z, Spain SL, Guarino E, Salguero I, Sherborne A, Chubb D, Carvajal-Carmona LG, Ma Y, Kaur K, Dobbins S, Barclay E, Gorman M, Martin L, Kovac MB, Humphray S; CORGI Consortium; WGS500 Consortium; Lucassen A, Holmes CC, Bentley D, Donnelly P, Taylor J, Petridis C, Roylance R, Sawyer EJ, Kerr DJ, Clark S, Grimes J, Kearsey SE, Thomas HJ, McVean G, Houlston RS, Tomlinson I. Palles C, et al. Nat Genet. 2013 Feb;45(2):136-44. doi: 10.1038/ng.2503. Epub 2012 Dec 23. Nat Genet. 2013. PMID: 23263490 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: kingsbury z. 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.
Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia.
Tirtakusuma R, Szoltysek K, Milne P, Grinev VV, Ptasinska A, Chin PS, Meyer C, Nakjang S, Hehir-Kwa JY, Williamson D, Cauchy P, Keane P, Assi SA, Ashtiani M, Kellaway SG, Imperato MR, Vogiatzi F, Schweighart EK, Lin S, Wunderlich M, Stutterheim J, Komkov A, Zerkalenkova E, Evans P, McNeill H, Elder A, Martinez-Soria N, Fordham SE, Shi Y, Russell LJ, Pal D, Smith A, Kingsbury Z, Becq J, Eckert C, Haas OA, Carey P, Bailey S, Skinner R, Miakova N, Collin M, Bigley V, Haniffa M, Marschalek R, Harrison CJ, Cargo CA, Schewe D, Olshanskaya Y, Thirman MJ, Cockerill PN, Mulloy JC, Blair HJ, Vormoor J, Allan JM, Bonifer C, Heidenreich O, Bomken S. Tirtakusuma R, et al. Among authors: kingsbury z. Blood. 2022 Oct 27;140(17):1875-1890. doi: 10.1182/blood.2021015036. Blood. 2022. PMID: 35839448 Free PMC article.
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S, Heskin L, Degasperi A, Black D, Koh GCC, Chmelova L, Rinaldi G, Bell S, Grybowicz L, Elgar G, Memari Y, Robbe P, Kingsbury Z, Caldas C, Abraham J, Schuh A, Jones L; PARTNER Trial Group; Personalised Breast Cancer Program Group; Tischkowitz M, Brown MA, Davies HR, Nik-Zainal S. Basyuni S, et al. Among authors: kingsbury z. Nat Commun. 2024 Sep 4;15(1):7731. doi: 10.1038/s41467-024-51577-2. Nat Commun. 2024. PMID: 39231944 Free PMC article.
A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R, Mauleekoonphairoj J, Mengarelli I, Bosada FM, Verkerk AO, van Duijvenboden K, Poovorawan Y, Wongcharoen W, Sutjaporn B, Wandee P, Chimparlee N, Chokesuwattanaskul R, Vongpaisarnsin K, Dangkao P, Wu CI, Tadros R, Amin AS, Lieve KVV, Postema PG, Kooyman M, Beekman L, Sahasatas D, Amnueypol M, Krittayaphong R, Prechawat S, Anannab A, Makarawate P, Ngarmukos T, Phusanti K, Veerakul G, Kingsbury Z, Newington T, Maheswari U, Ross MT, Grace A, Lambiase PD, Behr ER, Schott JJ, Redon R, Barc J, Christoffels VM, Wilde AAM, Nademanee K, Bezzina CR, Khongphatthanayothin A. Walsh R, et al. Among authors: kingsbury z. Circulation. 2024 Oct 11. doi: 10.1161/CIRCULATIONAHA.124.069041. Online ahead of print. Circulation. 2024. PMID: 39391988 Free article.
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: kingsbury z. 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.
49 results