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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. Among authors: bruce i. BMJ Open. 2021 Jun 16;11(6):e044457. doi: 10.1136/bmjopen-2020-044457. BMJ Open. 2021. PMID: 34135034 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. Trends Hear. 2019 Jan-Dec;23:2331216519878983. doi: 10.1177/2331216519878983. Trends Hear. 2019. PMID: 31621509 Free PMC article. Review.
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. 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.
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. 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.
Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.
McDermott JH, Mahaveer A, James RA, Booth N, Turner M, Harvey KE, Miele G, Beaman GM, Stoddard DC, Tricker K, Corry RJ, Garlick J, Ainsworth S, Beevers T, Bruce IA, Body R, Ulph F, MacLeod R, Roberts PL, Wilson PM, Newman WG; PALOH Study Team. McDermott JH, et al. JAMA Pediatr. 2022 May 1;176(5):486-492. doi: 10.1001/jamapediatrics.2022.0187. JAMA Pediatr. 2022. PMID: 35311942 Free PMC article.
873 results