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DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.
Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R, Ejaz A, Vattathil S, Maserati E, Houlden H, Taanman JW, Schapira AH, Proukakis C. Nacheva E, et al. Among authors: mokretar k. PLoS One. 2017 Jul 6;12(7):e0180467. doi: 10.1371/journal.pone.0180467. eCollection 2017. PLoS One. 2017. PMID: 28683077 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Molecular Monitoring of Chronic Myeloid Leukemia.
Dominy K, Mokretar K, Reid AG, Khorashad JS. Dominy K, et al. Among authors: mokretar k. Methods Mol Biol. 2020;2065:153-173. doi: 10.1007/978-1-4939-9833-3_12. Methods Mol Biol. 2020. PMID: 31578694
Carfilzomib Enhances the Suppressive Effect of Ruxolitinib in Myelofibrosis.
Claudiani S, Mason CC, Milojkovic D, Bianchi A, Pellegrini C, Di Marco A, Fiol CR, Robinson M, Ponnusamy K, Mokretar K, Chowdhury A, Albert M, Reid AG, Deininger MW, Naresh K, Apperley JF, Khorashad JS. Claudiani S, et al. Among authors: mokretar k. Cancers (Basel). 2021 Sep 28;13(19):4863. doi: 10.3390/cancers13194863. Cancers (Basel). 2021. PMID: 34638347 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.
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