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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Hyder Z, Calpena E, Pei Y, Tooze RS, Brittain H, Twigg SRF, Cilliers D, Morton JEV, McCann E, Weber A, Wilson LC, Douglas AGL, McGowan R, Need A, Bond A, Tavares ALT, Thomas ERA; Genomics England Research Consortium; Hill SL, Deans ZC, Boardman-Pretty F, Caulfield M, Scott RH, Wilkie AOM. Hyder Z, et al. Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25. Genet Med. 2021. PMID: 34429528 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.
Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment.
Evans DG, Phillips KA, Milne RL, Fruscio R, Cybulski C, Gronwald J, Lubinski J, Huzarski T, Hyder Z, Forde C, Metcalfe K, Senter L, Weitzel J, Tung N, Zakalik D, Ekholm M, Sun P, Narod SA; kConFab Investigators, Polish Hereditary Breast Cancer Consortium, Hereditary Breast Cancer Clinical Study Group. Evans DG, et al. Among authors: hyder z. Br J Cancer. 2023 Feb;128(4):703. doi: 10.1038/s41416-022-02130-9. Br J Cancer. 2023. PMID: 36639528 Free PMC article. No abstract available.
38 results