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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

145 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genome sequencing as a generic diagnostic strategy for rare disease.
Schobers G, Derks R, den Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, Lugtenberg D, Sun SM, Corominas Galbany J, Weiss M, Blok MJ, Olde Keizer RACM, Hofste T, Hellebrekers D, de Leeuw N, Stegmann A, Kamsteeg EJ, Paulussen ADC, Ligtenberg MJL, Bradley XZ, Peden J, Gutierrez A, Pullen A, Payne T, Gilissen C, van den Wijngaard A, Brunner HG, Nelen M, Yntema HG, Vissers LELM. Schobers G, et al. Among authors: peden j. Genome Med. 2024 Feb 14;16(1):32. doi: 10.1186/s13073-024-01301-y. Genome Med. 2024. PMID: 38355605 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: peden jf. 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.
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, Kutalik Z, Luan J, Mägi R, Randall JC, Winkler TW, Wood AR, Workalemahu T, Faul JD, Smith JA, Zhao JH, Zhao W, Chen J, Fehrmann R, Hedman ÅK, Karjalainen J, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bolton JL, Bragg-Gresham JL, Buyske S, Demirkan A, Deng G, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Goel A, Gong J, Jackson AU, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Leach IM, Medina-Gomez C, Medland SE, Nalls MA, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Shungin D, Stančáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Isaacs A, Albrecht E, Ärnlöv J, Arscott GM, Attwood AP, Bandinelli S, Barrett A, Bas IN, Bellis C, Bennett AJ, Berne C, Blagieva R, Blüher M, Böhringer S, Bonnycastle LL, Böttcher Y, Boyd HA, Bruinenberg M, Caspersen IH, Chen YI, Clarke R, Daw EW, de Craen AJM, Delgado G, Dimitriou M, Doney ASF, Eklund N, Estrada K, Eury E, Folkersen L, Fraser RM, Garci… See abstract for full author list ➔ Locke AE, et al. Among authors: peden jf. Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177. Nature. 2015. PMID: 25673413 Free PMC 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: peden jf. 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.
Correction to: The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care.
Cerone MA, Mills TC, Sharpe R, McBride D, MacDonald M, MacMahon S, Mugalaasi H, Rehal P, Rettino A, Roberts H, Ross M, White DE, Peden J, Rawlinson J, Ho SN, Hollingsworth S, Popat S, Middleton G, Johnson P, Swanton C; SMP2 consortium. Cerone MA, et al. Among authors: peden j. Br J Cancer. 2023 Jan;128(2):399. doi: 10.1038/s41416-023-02160-x. Br J Cancer. 2023. PMID: 36697967 Free PMC article. No abstract available.
The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care.
Cerone MA, Mills TC, Sharpe R, McBride D, MacDonald M, MacMahon S, Mugalaasi H, Rehal P, Rettino A, Roberts H, Ross M, White DE, Peden J, Rawlinson J, Ho SN, Hollingsworth S, Popat S, Middleton G, Johnson P, Swanton C; SMP2 consortium. Cerone MA, et al. Among authors: peden j. Br J Cancer. 2023 Jan;128(2):161-164. doi: 10.1038/s41416-022-02107-8. Epub 2023 Jan 4. Br J Cancer. 2023. PMID: 36599918 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 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. 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.
145 results