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Year Number of Results
2015 1
2016 5
2017 8
2018 4
2019 4
2020 2
2024 0

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19 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.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Ramsbottom SA, et al. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1113-1118. doi: 10.1073/pnas.1912602117. Epub 2019 Dec 26. Proc Natl Acad Sci U S A. 2020. PMID: 31879347 Free PMC article.
Renal ciliopathies.
Devlin LA, Sayer JA. Devlin LA, et al. Curr Opin Genet Dev. 2019 Jun;56:49-60. doi: 10.1016/j.gde.2019.07.005. Epub 2019 Aug 13. Curr Opin Genet Dev. 2019. PMID: 31419725 Review.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. Alkanderi S, et al. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269812 Free PMC article.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Enerbäck S, et al. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14. J Am Soc Nephrol. 2018. PMID: 29242249 Free PMC article.
19 results