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Page 1
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: forde 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.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Woodward ER, van Veen EM, Forde C, Harkness EF, Byers HJ, Ellingford JM, Burghel GJ, Schlech H, Bowers NL, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ, Gareth Evans D. Woodward ER, et al. Among authors: forde c. Genet Med. 2021 Oct;23(10):1969-1976. doi: 10.1038/s41436-021-01234-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113003 Free PMC article.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER. Evans DG, et al. Among authors: forde c. J Med Genet. 2023 Aug;60(8):740-746. doi: 10.1136/jmg-2022-108790. Epub 2022 Nov 28. J Med Genet. 2023. PMID: 36442995
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testing.
Evans DG, Woodward ER, Burghel GJ, Allen S, Torr B, Hamill M, Kavanaugh G, Hubank M, Bremner S, Jones CI, Schlecht H, Astley S, Bowers S, Gibbons S, Ruane H, Fosbury C, Howell SJ, Forde C, Lalloo F, Newman WG, Smith MJ, Howell A, Turnbull C, Gandhi A. Evans DG, et al. Among authors: forde c. Genet Med Open. 2023 Nov 25;2:100849. doi: 10.1016/j.gimo.2023.100849. eCollection 2024. Genet Med Open. 2023. PMID: 39669617 Free PMC article.
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.
Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SR, Pathmanaban ON, Stapleton E, Thomas OM, Laitt RD, Stivaros S, Kilday JP, Vassallo G, McBain C, Kerrigan S, Smith MJ, McCabe MG, Harkness EF, Evans DG. Forde C, et al. Neuro Oncol. 2021 Jul 1;23(7):1113-1124. doi: 10.1093/neuonc/noaa284. Neuro Oncol. 2021. PMID: 33336705 Free PMC article.
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.
Forde C, Burkitt-Wright E, Turnpenny PD, Haan E, Ealing J, Mansour S, Holder M, Lahiri N, Dixit A, Procter A, Pacot L, Vidaud D, Capri Y, Gerard M, Dollfus H, Schaefer E, Quelin C, Sigaudy S, Busa T, Vera G, Damaj L, Messiaen L, Stevenson DA, Davies P, Palmer-Smith S, Callaway A, Wolkenstein P, Pasmant E, Upadhyaya M. Forde C, et al. Eur J Hum Genet. 2022 Mar;30(3):291-297. doi: 10.1038/s41431-021-01015-4. Epub 2021 Dec 13. Eur J Hum Genet. 2022. PMID: 34897289 Free PMC article.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
239 results