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

Year Number of Results
1986 2
1987 1
1988 2
1989 1
1990 1
1992 1
1993 4
1996 1
1997 2
1999 3
2000 3
2001 3
2002 1
2003 1
2006 2
2007 1
2011 1
2013 2
2015 1
2019 2
2020 5
2021 1
2022 1
2025 1

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40 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.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Preimplantation genetic diagnosis.
Flinter FA. Flinter FA. BMJ. 2001 Apr 28;322(7293):1008-9. doi: 10.1136/bmj.322.7293.1008. BMJ. 2001. PMID: 11325751 Free PMC article. No abstract available.
Genetics of classic Alport's syndrome.
Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M. Flinter FA, et al. Lancet. 1988 Oct 29;2(8618):1005-7. doi: 10.1016/s0140-6736(88)90753-2. Lancet. 1988. PMID: 2902439 Review.
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.
Adhya D, Swarup V, Nagy R, Dutan L, Shum C, Valencia-Alarcón EP, Jozwik KM, Mendez MA, Horder J, Loth E, Nowosiad P, Lee I, Skuse D, Flinter FA, Murphy D, McAlonan G, Geschwind DH, Price J, Carroll J, Srivastava DP, Baron-Cohen S. Adhya D, et al. Among authors: flinter fa. Biol Psychiatry. 2021 Mar 1;89(5):486-496. doi: 10.1016/j.biopsych.2020.06.014. Epub 2020 Jun 23. Biol Psychiatry. 2021. PMID: 32826066 Free PMC article.
The importance of clinician, patient and researcher collaborations in Alport syndrome.
Rheault MN, Savige J, Randles MJ, Weinstock A, Stepney M, Turner AN, Parziale G, Gross O, Flinter FA, Miner JH, Lagas S, Gear S, Lennon R. Rheault MN, et al. Among authors: flinter fa. Pediatr Nephrol. 2020 May;35(5):733-742. doi: 10.1007/s00467-019-04241-7. Epub 2019 May 1. Pediatr Nephrol. 2020. PMID: 31044288 Free PMC article.
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Lennon R, Stuart HM, Bierzynska A, Randles MJ, Kerr B, Hillman KA, Batra G, Campbell J, Storey H, Flinter FA, Koziell A, Welsh GI, Saleem MA, Webb NJ, Woolf AS. Lennon R, et al. Among authors: flinter fa. Pediatr Nephrol. 2015 Sep;30(9):1459-65. doi: 10.1007/s00467-015-3067-9. Epub 2015 Mar 5. Pediatr Nephrol. 2015. PMID: 25739341 Free PMC article.
40 results