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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. Molina-Ramírez LP, et al. Among authors: bruce ia. J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. J Med Genet. 2022. PMID: 33879512 Free PMC article.
Diagnosing and Preventing Hearing Loss in the Genomic Age.
McDermott JH, Molina-Ramírez LP, Bruce IA, Mahaveer A, Turner M, Miele G, Body R, Mahood R, Ulph F, MacLeod R, Harvey K, Booth N, Demain LAM, Wilson P, Black GC, Morton CC, Newman WG. McDermott JH, et al. Among authors: bruce ia. Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983. Trends Hear. 2019. PMID: 31621509 Free PMC article. Review.
Cochlear implantation in the era of genomic medicine.
Molina-Ramirez LP, Bruce IA, Black GCM. Molina-Ramirez LP, et al. Among authors: bruce ia. Cochlear Implants Int. 2020 Mar;21(2):117-120. doi: 10.1080/14670100.2019.1678895. Epub 2019 Oct 24. Cochlear Implants Int. 2020. PMID: 31648626 No abstract available.
Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial.
McDermott JH, Mahood R, Stoddard D, Mahaveer A, Turner MA, Corry R, Garlick J, Miele G, Ainsworth S, Kemp L, Bruce I, Body R, Ulph F, Macleod R, Harvey K, Booth N, Roberts P, Wilson P, Newman WG. McDermott JH, et al. BMJ Open. 2021 Jun 16;11(6):e044457. doi: 10.1136/bmjopen-2020-044457. BMJ Open. 2021. PMID: 34135034 Free PMC article.
The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.
Molina-Ramírez LP, Burkitt-Wright EM, Saeed H, McDermott JH, Kyle C, Wright R, Campbell C, Bhaskar SS, Taylor A, Dutton L, Forde C, Metcalfe K, Smith A, Clayton-Smith J, Douzgou S, Chandler K, Briggs TA, Banka S, Newman WG, Gokhale D, Bruce IA, Black GC. Molina-Ramírez LP, et al. Among authors: bruce ia. Clin Otolaryngol. 2021 Nov;46(6):1257-1262. doi: 10.1111/coa.13826. Epub 2021 Jul 5. Clin Otolaryngol. 2021. PMID: 34171171 No abstract available.
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Clayton-Smith J, Bromley R, Dean J, Journel H, Odent S, Wood A, Williams J, Cuthbert V, Hackett L, Aslam N, Malm H, James G, Westbom L, Day R, Ladusans E, Jackson A, Bruce I, Walker R, Sidhu S, Dyer C, Ashworth J, Hindley D, Diaz GA, Rawson M, Turnpenny P. Clayton-Smith J, et al. Orphanet J Rare Dis. 2019 Jul 19;14(1):180. doi: 10.1186/s13023-019-1064-y. Orphanet J Rare Dis. 2019. PMID: 31324220 Free PMC article.
162 results