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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2015 | 1 |
2018 | 1 |
2019 | 1 |
2020 | 3 |
2022 | 2 |
2024 | 0 |
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8 results
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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
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.
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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.
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Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF.
Wei W, et al.
Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23.
Science. 2019.
PMID: 31123110
Free article.
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The impact of two state-level approaches to restricting the sale of flavored tobacco products.
Satchell T, Diaz MC, Stephens D, Bertrand A, Schillo BA, Whitsel LP.
Satchell T, et al.
BMC Public Health. 2022 Sep 22;22(1):1799. doi: 10.1186/s12889-022-14172-y.
BMC Public Health. 2022.
PMID: 36138373
Free PMC article.
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Determining Chronic Disease Prevalence in Local Populations Using Emergency Department Surveillance.
Lee DC, Long JA, Wall SP, Carr BG, Satchell SN, Braithwaite RS, Elbel B.
Lee DC, et al.
Am J Public Health. 2015 Sep;105(9):e67-74. doi: 10.2105/AJPH.2015.302679. Epub 2015 Jul 16.
Am J Public Health. 2015.
PMID: 26180983
Free PMC article.
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The bacterial Ras/Rap1 site-specific endopeptidase RRSP cleaves Ras through an atypical mechanism to disrupt Ras-ERK signaling.
Biancucci M, Minasov G, Banerjee A, Herrera A, Woida PJ, Kieffer MB, Bindu L, Abreu-Blanco M, Anderson WF, Gaponenko V, Stephen AG, Holderfield M, Satchell KJF.
Biancucci M, et al.
Sci Signal. 2018 Oct 2;11(550):eaat8335. doi: 10.1126/scisignal.aat8335.
Sci Signal. 2018.
PMID: 30279169
Free PMC article.
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Publisher Correction: 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 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6.
Nature. 2020.
PMID: 32678341
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