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Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. Smith MJ, et al. Among authors: burghel gj. J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. J Med Genet. 2024. PMID: 39209702
Levels of DNA Methylation Vary at CpG Sites across the BRCA1 Promoter, and Differ According to Triple Negative and "BRCA-Like" Status, in Both Blood and Tumour DNA.
Daniels SL, Burghel GJ, Chambers P, Al-Baba S, Connley DD, Brock IW, Cramp HE, Dotsenko O, Wilks O, Wyld L, Cross SS, Cox A. Daniels SL, et al. Among authors: burghel gj. PLoS One. 2016 Jul 27;11(7):e0160174. doi: 10.1371/journal.pone.0160174. eCollection 2016. PLoS One. 2016. PMID: 27463681 Free PMC article.
Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus.
Camp NJ, Lin WY, Bigelow A, Burghel GJ, Mosbruger TL, Parry MA, Waller RG, Rigas SH, Tai PY, Berrett K, Rajamanickam V, Cosby R, Brock IW, Jones B, Connley D, Sargent R, Wang G, Factor RE, Bernard PS, Cannon-Albright L, Knight S, Abo R, Werner TL, Reed MW, Gertz J, Cox A. Camp NJ, et al. Among authors: burghel gj. Cancer Res. 2016 Apr 1;76(7):1916-25. doi: 10.1158/0008-5472.CAN-15-1629. Epub 2016 Jan 21. Cancer Res. 2016. PMID: 26795348 Free PMC article.
Genomic Subtypes of Non-invasive Bladder Cancer with Distinct Metabolic Profile and Female Gender Bias in KDM6A Mutation Frequency.
Hurst CD, Alder O, Platt FM, Droop A, Stead LF, Burns JE, Burghel GJ, Jain S, Klimczak LJ, Lindsay H, Roulson JA, Taylor CF, Thygesen H, Cameron AJ, Ridley AJ, Mott HR, Gordenin DA, Knowles MA. Hurst CD, et al. Among authors: burghel gj. Cancer Cell. 2017 Nov 13;32(5):701-715.e7. doi: 10.1016/j.ccell.2017.08.005. Cancer Cell. 2017. PMID: 29136510 Free PMC article.
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing.
Innes J, Reali L, Clayton-Smith J, Hall G, Lim DH, Burghel GJ, French K, Khan U, Walker D, Lalloo F, Evans DGR, McMullan D, Maher ER, Woodward ER. Innes J, et al. Among authors: burghel gj. J Med Genet. 2018 Feb;55(2):89-96. doi: 10.1136/jmedgenet-2017-104892. Epub 2017 Sep 16. J Med Genet. 2018. PMID: 28918392
66 results