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Year Number of Results
2018 5
2019 3
2020 14
2021 13
2022 6
2023 3
2024 0

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39 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.
Repurposing Antimalarials to Tackle the COVID-19 Pandemic.
Krishna S, Augustin Y, Wang J, Xu C, Staines HM, Platteeuw H, Kamarulzaman A, Sall A, Kremsner P. Krishna S, et al. Trends Parasitol. 2021 Jan;37(1):8-11. doi: 10.1016/j.pt.2020.10.003. Epub 2020 Oct 19. Trends Parasitol. 2021. PMID: 33153922 Free PMC article. Review.
Vascular Collagen Type-IV in Hypertension and Cerebral Small Vessel Disease.
Kumar AA, Yeo N, Whittaker M, Attra P, Barrick TR, Bridges LR, Dickson DW, Esiri MM, Farris CW, Graham D, Lin WL, Meijles DN, Pereira AC, Perry G, Rosene DL, Shtaya AB, Van Agtmael T, Zamboni G, Hainsworth AH. Kumar AA, et al. Stroke. 2022 Dec;53(12):3696-3705. doi: 10.1161/STROKEAHA.122.037761. Epub 2022 Oct 7. Stroke. 2022. PMID: 36205142 Free PMC article.
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
Self-sampling of capillary blood for SARS-CoV-2 serology.
Brown L, Byrne RL, Fraser A, Owen SI, Cubas-Atienzar AI, Williams CT, Kay GA, Cuevas LE, Fitchett JRA, Fletcher T, Garrod G, Kontogianni K, Krishna S, Menzies S, Planche T, Sainter C, Staines HM, Turtle L, Adams ER. Brown L, et al. Sci Rep. 2021 Apr 8;11(1):7754. doi: 10.1038/s41598-021-86008-5. Sci Rep. 2021. PMID: 33833246 Free PMC article.
SARS-CoV-2 Vaccine Immunogenicity in Patients with Gastrointestinal Cancer Receiving Systemic Anti-Cancer Therapy.
Lau DK, Aresu M, Planche T, Tran A, Lazaro-Alcausi R, Duncan J, Kidd S, Cromarty S, Begum R, Rana I, Li S, Suwaidan AA, Monahan I, Clark DJ, Eckersley N, Staines HM, Groppelli E, Krishna S, Mayora-Neto M, Temperton N, Fribbens C, Watkins D, Starling N, Chau I, Cunningham D, Rao S. Lau DK, et al. Oncologist. 2023 Jan 18;28(1):e1-e8. doi: 10.1093/oncolo/oyac230. Oncologist. 2023. PMID: 36342104 Free PMC article.
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Hodgson J, Swietlik EM, Salmon RM, Hadinnapola C, Nikolic I, Wharton J, Guo J, Liley J, Haimel M, Bleda M, Southgate L, Machado RD, Martin JM, Treacy CM, Yates K, Daugherty LC, Shamardina O, Whitehorn D, Holden S, 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, Lawrie A, MacKenzie Ross RV, Moledina S, Montani D, Olschewski A, Olschewski H, Ouwehand WH, Peacock AJ, Pepke-Zaba J, Prokopenko I, Rhodes CJ, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner MR, Trembath RC, Vonk Noordegraaf A, Wort SJ, Wilkins MR, Yu PB, Li W, Gräf S, Upton PD, Morrell NW. Hodgson J, et al. Am J Respir Crit Care Med. 2020 Mar 1;201(5):575-585. doi: 10.1164/rccm.201906-1141OC. Am J Respir Crit Care Med. 2020. PMID: 31661308 Free PMC article.
39 results