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Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ. Hu C, et al. Among authors: gupta s. Clin Cancer Res. 2022 Sep 1;28(17):3742-3751. doi: 10.1158/1078-0432.CCR-22-0203. Clin Cancer Res. 2022. PMID: 35736817 Free PMC article.
Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.
Mistry NA, Roellinger SE, Manninen MC, Gandham M, Koganti T, Balan J, Basu S, Blake EJ, Tandale PP, Holdren MA, Hoenig MF, Urban RM, Veith RL, Kendzior MC, Wang C, Gupta S, Shen W. Mistry NA, et al. Among authors: gupta s. J Mol Diagn. 2024 Sep;26(9):843-850. doi: 10.1016/j.jmoldx.2024.06.001. Epub 2024 Jun 24. J Mol Diagn. 2024. PMID: 38925456
Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing.
Freitag CE, Sukov WR, Bryce AH, Berg JV, Vanderbilt CM, Shen W, Smadbeck JB, Greipp PT, Ketterling RP, Jenkins RB, Herrera-Hernandez L, Costello BA, Thompson RH, Boorjian SA, Leibovich BC, Jimenez RE, Murphy SJ, Vasmatzis G, Cheville JC, Gupta S. Freitag CE, et al. Among authors: gupta s. Hum Pathol. 2021 Jun;112:20-34. doi: 10.1016/j.humpath.2021.03.008. Epub 2021 Mar 31. Hum Pathol. 2021. PMID: 33798590
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