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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Truty R, et al. Epilepsia Open. 2019 Jul 1;4(3):397-408. doi: 10.1002/epi4.12348. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440721 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: truty rm. 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: truty r. Epilepsia. 2022 Jul;63(7):e68-e73. doi: 10.1111/epi.17269. Epub 2022 May 10. Epilepsia. 2022. PMID: 35474188 Free PMC article.
39 results