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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: kyle c. 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.
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: kyle c. 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.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K. Ostrowski PJ, et al. Among authors: kyle c. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):638-643. doi: 10.1002/ajmg.c.31750. Epub 2019 Nov 12. Am J Med Genet C Semin Med Genet. 2019. PMID: 31714006
Real-time evaluation of signal accuracy in wastewater surveillance of pathogens with high rates of mutation.
Thakali O, Mercier É, Eid W, Wellman M, Brasset-Gorny J, Overton AK, Knapp JJ, Manuel D, Charles TC, Goodridge L, Arts EJ, Poon AFY, Brown RS, Graber TE, Delatolla R, DeGroot CT; Ontario Wastewater Surveillance Consortium. Thakali O, et al. Sci Rep. 2024 Feb 14;14(1):3728. doi: 10.1038/s41598-024-54319-y. Sci Rep. 2024. PMID: 38355869 Free PMC article.
The genome sequence of the Loggerhead sea turtle, Caretta caretta Linnaeus 1758.
Chang G, Jones S, Leelakumari S, Ashkani J, Culibrk L, O'Neill K, Tse K, Cheng D, Chuah E, McDonald H, Kirk H, Pandoh P, Pari S, Angelini V, Kyle C, Bertorelle G, Zhao Y, Mungall A, Moore R, Vilaça S, Jones S. Chang G, et al. Among authors: kyle c. F1000Res. 2023 Jun 27;12:336. doi: 10.12688/f1000research.131283.2. eCollection 2023. F1000Res. 2023. PMID: 37455852 Free PMC article.
197 results