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One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL, Huang C, Garlick RK, Rahman N, Salit M, Kingsmore SF, Ferber MJ, Aradhya S, Nussbaum RL. Lincoln SE, et al. Among authors: aradhya s. Genet Med. 2021 Sep;23(9):1673-1680. doi: 10.1038/s41436-021-01187-w. Epub 2021 May 18. Genet Med. 2021. PMID: 34007000 Free PMC article.
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.
McKnight D, Bristow SL, Truty RM, Morales A, Stetler M, Westbrook MJ, Robinson K, Riethmaier D, Borlot F, Kellogg M, Hwang ST, Berg A, Aradhya S. McKnight D, et al. Among authors: aradhya s. Neurol Genet. 2021 Dec 16;8(1):e650. doi: 10.1212/NXG.0000000000000650. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34926809 Free PMC article.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
Leal-Pardinas F, Truty R, McKnight DA, Johnson B, Morales A, Bristow SL, Yar Pang T, Cohen-Pfeffer J, Izzo E, Sankar R, Koh S, Wirrell EC, Millichap JJ, Aradhya S. Leal-Pardinas F, et al. Among authors: aradhya s. Epilepsia. 2022 Jul;63(7):e68-e73. doi: 10.1111/epi.17269. Epub 2022 May 10. Epilepsia. 2022. PMID: 35474188 Free PMC article.
154 results