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Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: campbell c. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM. Ellingford JM, et al. Among authors: campbell c. J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26. J Med Genet. 2018. PMID: 29074561 Free PMC article.
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: campbell 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.
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: campbell 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.
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: campbell c. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. PMID: 37745552 Free PMC article. Preprint.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Sebastiano MR, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. Trajkova S, et al. Among authors: campbell cm. HGG Adv. 2024 May 14:100309. doi: 10.1016/j.xhgg.2024.100309. Online ahead of print. HGG Adv. 2024. PMID: 38751117 Free article.
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Ellingford JM, et al. Among authors: campbell c. Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3. Genome Med. 2022. PMID: 35850704 Free PMC article.
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI. Taylor RL, et al. Among authors: campbell c. Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22. Ophthalmology. 2017. PMID: 28341476
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. Jiman OA, et al. Among authors: campbell c. Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. Eur J Hum Genet. 2020. PMID: 31836858 Free PMC article.
4,593 results