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

Year Number of Results
2002 7
2003 10
2004 8
2005 9
2006 6
2007 5
2008 3
2009 9
2010 11
2011 16
2012 12
2013 10
2014 12
2015 10
2016 14
2017 18
2018 18
2019 15
2020 19
2021 17
2022 14
2023 12
2024 10
2025 17
2026 3

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263 results

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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.
Essential metals in health and disease.
Jomova K, Makova M, Alomar SY, Alwasel SH, Nepovimova E, Kuca K, Rhodes CJ, Valko M. Jomova K, et al. Among authors: rhodes cj. Chem Biol Interact. 2022 Nov 1;367:110173. doi: 10.1016/j.cbi.2022.110173. Epub 2022 Sep 22. Chem Biol Interact. 2022. PMID: 36152810 Free article. Review.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Ferroptosis-Mediated Inflammation Promotes Pulmonary Hypertension.
Kazmirczak F, Vogel NT, Prisco SZ, Patterson MT, Annis J, Moon RT, Hartweck LM, Mendelson JB, Kim M, Calixto Mancipe N, Markowski T, Higgins L, Guerrero C, Kremer B, Blake ML, Rhodes CJ, Williams JW, Brittain EL, Prins KW. Kazmirczak F, et al. Among authors: rhodes cj. Circ Res. 2024 Nov 8;135(11):1067-1083. doi: 10.1161/CIRCRESAHA.123.324138. Epub 2024 Oct 18. Circ Res. 2024. PMID: 39421926 Free PMC article.
Hepatic glucagon action: beyond glucose mobilization.
Kajani S, Laker RC, Ratkova E, Will S, Rhodes CJ. Kajani S, et al. Among authors: rhodes cj. Physiol Rev. 2024 Jul 1;104(3):1021-1060. doi: 10.1152/physrev.00028.2023. Epub 2024 Feb 1. Physiol Rev. 2024. PMID: 38300523 Free article. Review.
Plastic pollution and potential solutions.
Rhodes CJ. Rhodes CJ. Sci Prog. 2018 Sep 1;101(3):207-260. doi: 10.3184/003685018X15294876706211. Epub 2018 Jul 19. Sci Prog. 2018. PMID: 30025551 Free PMC article. Review.
Resolution of NASH and hepatic fibrosis by the GLP-1R/GcgR dual-agonist Cotadutide via modulating mitochondrial function and lipogenesis.
Boland ML, Laker RC, Mather K, Nawrocki A, Oldham S, Boland BB, Lewis H, Conway J, Naylor J, Guionaud S, Feigh M, Veidal SS, Lantier L, McGuinness OP, Grimsby J, Rondinone CM, Jermutus L, Larsen MR, Trevaskis JL, Rhodes CJ. Boland ML, et al. Among authors: rhodes cj. Nat Metab. 2020 May;2(5):413-431. doi: 10.1038/s42255-020-0209-6. Epub 2020 May 21. Nat Metab. 2020. PMID: 32478287 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.
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S, Haimel M, Bleda M, Hadinnapola C, Southgate L, Li W, Hodgson J, Liu B, Salmon RM, Southwood M, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, Aldred M, Bogaard HJ, Church C, Coghlan G, Condliffe R, Corris PA, Danesino C, Eyries M, Gall H, Ghio S, Ghofrani HA, Gibbs JSR, Girerd B, Houweling AC, Howard L, Humbert M, Kiely DG, Kovacs G, MacKenzie Ross RV, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Stein DF, Suntharalingam J, Swietlik EM, Toshner MR, van Heel DA, Vonk Noordegraaf A, Waisfisz Q, Wharton J, Wort SJ, Ouwehand WH, Soranzo N, Lawrie A, Upton PD, Wilkins MR, Trembath RC, Morrell NW. Gräf S, et al. Among authors: rhodes cj. Nat Commun. 2018 Apr 12;9(1):1416. doi: 10.1038/s41467-018-03672-4. Nat Commun. 2018. PMID: 29650961 Free PMC article.
Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension.
Hong J, Medzikovic L, Sun W, Wong B, Ruffenach G, Rhodes CJ, Brownstein A, Liang LL, Aryan L, Li M, Vadgama A, Kurt Z, Schwantes-An TH, Mickler EA, Gräf S, Eyries M, Lutz KA, Pauciulo MW, Trembath RC, Perros F, Montani D, Morrell NW, Soubrier F, Wilkins MR, Nichols WC, Aldred MA, Desai AA, Trégouët DA, Umar S, Saggar R, Channick R, Tuder RM, Geraci MW, Stearman RS, Yang X, Eghbali M. Hong J, et al. Among authors: rhodes cj. Circulation. 2024 Oct 15;150(16):1268-1287. doi: 10.1161/CIRCULATIONAHA.124.069864. Epub 2024 Aug 21. Circulation. 2024. PMID: 39167456 Free PMC article.
263 results