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Page 1
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.
Recent advances in pulmonary arterial hypertension.
Wilkins MR, Aman J, Harbaum L, Ulrich A, Wharton J, Rhodes CJ. Wilkins MR, et al. F1000Res. 2018 Jul 24;7:F1000 Faculty Rev-1128. doi: 10.12688/f1000research.14984.1. eCollection 2018. F1000Res. 2018. PMID: 30079232 Free PMC article. Review.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Therapeutic potential of KLF2-induced exosomal microRNAs in pulmonary hypertension.
Sindi HA, Russomanno G, Satta S, Abdul-Salam VB, Jo KB, Qazi-Chaudhry B, Ainscough AJ, Szulcek R, Jan Bogaard H, Morgan CC, Pullamsetti SS, Alzaydi MM, Rhodes CJ, Piva R, Eichstaedt CA, Grünig E, Wilkins MR, Wojciak-Stothard B. Sindi HA, et al. Among authors: wilkins mr. Nat Commun. 2020 Mar 4;11(1):1185. doi: 10.1038/s41467-020-14966-x. Nat Commun. 2020. PMID: 32132543 Free PMC article.
Deprivation and prognosis in patients with pulmonary arterial hypertension: missing the effect of deprivation on a rare disease?
Sofianopoulou E, Church C, Coghlan G, Howard L, Johnson M, Kiely DG, Lawrie A, Lordan J, Wilkins MR, Wort SJ, Morrell NW, Toshner MR. Sofianopoulou E, et al. Among authors: wilkins mr. Eur Respir J. 2020 Aug 13;56(2):1902334. doi: 10.1183/13993003.02334-2019. Print 2020 Aug. Eur Respir J. 2020. PMID: 32299862 Free PMC article.
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome.
Rhodes CJ, Otero-Núñez P, Wharton J, Swietlik EM, Kariotis S, Harbaum L, Dunning MJ, Elinoff JM, Errington N, Thompson AAR, Iremonger J, Coghlan JG, Corris PA, Howard LS, Kiely DG, Church C, Pepke-Zaba J, Toshner M, Wort SJ, Desai AA, Humbert M, Nichols WC, Southgate L, Trégouët DA, Trembath RC, Prokopenko I, Gräf S, Morrell NW, Wang D, Lawrie A, Wilkins MR. Rhodes CJ, et al. Among authors: wilkins mr. Am J Respir Crit Care Med. 2020 Aug 15;202(4):586-594. doi: 10.1164/rccm.202003-0510OC. Am J Respir Crit Care Med. 2020. PMID: 32352834 Free PMC article.
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. Among authors: wilkins mr. 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.
582 results