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

Year Number of Results
2004 3
2005 1
2006 2
2007 2
2008 1
2011 2
2013 1
2014 2
2015 1
2016 2
2017 2
2018 5
2019 7
2020 6
2021 4
2022 4
2023 5
2024 1

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46 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.
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.
Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH): a randomised, double-blind, placebo-controlled, phase 3 trial.
van Schaik IN, Bril V, van Geloven N, Hartung HP, Lewis RA, Sobue G, Lawo JP, Praus M, Mielke O, Durn BL, Cornblath DR, Merkies ISJ; PATH study group. van Schaik IN, et al. Lancet Neurol. 2018 Jan;17(1):35-46. doi: 10.1016/S1474-4422(17)30378-2. Epub 2017 Nov 6. Lancet Neurol. 2018. PMID: 29122523 Free article. Clinical Trial.
Nitrous oxide-induced myeloneuropathy: a case series.
Mair D, Paris A, Zaloum SA, White LM, Dodd KC, Englezou C, Patel F, Abualnaja S, Lilleker JB, Gosal D, Hayton T, Liang D, Allroggen H, Pucci M, Keddie S, Noyce AJ. Mair D, et al. Among authors: gosal d. J Neurol Neurosurg Psychiatry. 2023 Sep;94(9):681-688. doi: 10.1136/jnnp-2023-331131. Epub 2023 May 30. J Neurol Neurosurg Psychiatry. 2023. PMID: 37253616 Free PMC article.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Ronco R, et al. Among authors: gosal d. Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26. Neurology. 2023. PMID: 36289003 Free PMC article.
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, van Zuydam N, Walker SM, Woods CG, Bennett DLH. Themistocleous AC, et al. Among authors: gosal d. Brain Commun. 2023 Feb 20;5(2):fcad037. doi: 10.1093/braincomms/fcad037. eCollection 2023. Brain Commun. 2023. PMID: 36895957 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: gosal d. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 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.
46 results