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Page 1
Utility of polygenic risk scores in UK cancer screening: a modelling analysis.
Huntley C, Torr B, Sud A, Rowlands CF, Way R, Snape K, Hanson H, Swanton C, Broggio J, Lucassen A, McCartney M, Houlston RS, Hingorani AD, Jones ME, Turnbull C. Huntley C, et al. Among authors: rowlands cf. Lancet Oncol. 2023 Jun;24(6):658-668. doi: 10.1016/S1470-2045(23)00156-0. Epub 2023 May 10. Lancet Oncol. 2023. PMID: 37178708 Free article. Review.
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Wood KA, Rowlands CF, Qureshi WMS, Thomas HB, Buczek WA, Briggs TA, Hubbard SJ, Hentges KE, Newman WG, O'Keefe RT. Wood KA, et al. Among authors: rowlands cf. Hum Mol Genet. 2019 Nov 15;28(22):3704-3723. doi: 10.1093/hmg/ddz169. Hum Mol Genet. 2019. PMID: 31304552 Free PMC article.
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ, Brendler-Spaeth T, Smith D, Offord V, Tan HK, Zhao Y, Obolenski S, Nielsen M, van Doorn R, Murphy JE, Gupta P, Rowlands CF, Hanson H, Delage E, Thomas M, Radford EJ, Gerety SS, Turnbull C, Perry JRB, Hurles ME, Adams DJ. Waters AJ, et al. Among authors: rowlands cf. Nat Genet. 2024 Jul;56(7):1434-1445. doi: 10.1038/s41588-024-01799-3. Epub 2024 Jul 5. Nat Genet. 2024. PMID: 38969833 Free PMC 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.
High-resolution functional mapping of RAD51C by saturation genome editing.
Olvera-León R, Zhang F, Offord V, Zhao Y, Tan HK, Gupta P, Pal T, Robles-Espinoza CD, Arriaga-González FG, Matsuyama LSAS, Delage E, Dicks E, Ezquina S, Rowlands CF, Turnbull C, Pharoah P, Perry JRB, Jasin M, Waters AJ, Adams DJ. Olvera-León R, et al. Among authors: rowlands cf. Cell. 2024 Oct 3;187(20):5719-5734.e19. doi: 10.1016/j.cell.2024.08.039. Epub 2024 Sep 18. Cell. 2024. PMID: 39299233 Free article.
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Wade I, Witkowski L, Ahmed A, Rowlands CF, Banerjee S, Pressey JG, McVeigh TP, Tischkowitz MD, Foulkes WD, Turnbull C; SCCOHT-SMARCA4 Registry Consortium. Wade I, et al. Among authors: rowlands cf. Genet Med. 2024 Oct 2;27(1):101287. doi: 10.1016/j.gim.2024.101287. Online ahead of print. Genet Med. 2024. PMID: 39367739
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. Among authors: rowlands cf. 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.
18 results