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

Results by year

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

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2007 2
2008 4
2009 6
2010 6
2011 11
2012 9
2013 5
2014 5
2015 3
2016 2
2017 6
2018 11
2019 11
2020 10
2021 5
2022 7
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

105 results

Results by year

Filters applied: . Clear all
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. 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.
The authors reply.
Ramnath RD, Butler MJ, Foster RR, Satchell SC. Ramnath RD, et al. Among authors: satchell sc. Kidney Int. 2020 May;97(5):1057-1058. doi: 10.1016/j.kint.2020.02.006. Kidney Int. 2020. PMID: 32331580 Free PMC article. No abstract available.
The Authors Reply.
Desideri S, Onions KL, Butler MJ, Michel CC, Satchell SC, Salmon AHJ, Foster RR. Desideri S, et al. Among authors: satchell sc. Kidney Int. 2018 Jul;94(1):220. doi: 10.1016/j.kint.2018.04.013. Kidney Int. 2018. PMID: 29933849 Free article. No abstract available.
Diabetic nephropathy.
Wylie EC, Satchell SC. Wylie EC, et al. Among authors: satchell sc. Clin Med (Lond). 2012 Oct;12(5):480-2; quiz 483-5. doi: 10.7861/clinmedicine.12-5-480. Clin Med (Lond). 2012. PMID: 23101153 Free PMC article. No abstract available.
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.
Visualising the endothelial glycocalyx in dogs.
Lawrence-Mills SJ, Neal CR, Satchell SC, Welsh GI, Foster RR, Finch N. Lawrence-Mills SJ, et al. Among authors: satchell sc. Vet J. 2022 Jul;285:105844. doi: 10.1016/j.tvjl.2022.105844. Epub 2022 May 28. Vet J. 2022. PMID: 35640795 Free PMC article.
Minimal Change Disease Is Associated With Endothelial Glycocalyx Degradation and Endothelial Activation.
Bauer C, Piani F, Banks M, Ordoñez FA, de Lucas-Collantes C, Oshima K, Schmidt EP, Zakharevich I, Segarra A, Martinez C, Roncal-Jimenez C, Satchell SC, Bjornstad P, Lucia MS, Blaine J, Thurman JM, Johnson RJ, Cara-Fuentes G. Bauer C, et al. Among authors: satchell sc. Kidney Int Rep. 2021 Dec 16;7(4):797-809. doi: 10.1016/j.ekir.2021.11.037. eCollection 2022 Apr. Kidney Int Rep. 2021. PMID: 35497798 Free PMC article.
105 results