Truty R - Search Results

1

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.

Winder TL, Tan CA, Klemm S, White H, Westbrook JM, Wang JZ, Entezam A, Truty R, Nussbaum RL, McNally EM, Aradhya S. Winder TL, et al. Among authors: truty r. Neurol Genet. 2020 Mar 9;6(2):e412. doi: 10.1212/NXG.0000000000000412. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32337338 Free PMC article.

2

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.

3

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.

Tan CA, Westbrook MJ, Truty R, Kvitek DJ, Kennemer M, Winder TL, Shieh PB. Tan CA, et al. Among authors: truty r. Genet Test Mol Biomarkers. 2020 Oct;24(10):616-624. doi: 10.1089/gtmb.2019.0282. Epub 2020 Jul 23. Genet Test Mol Biomarkers. 2020. PMID: 32721234

4

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.

Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. Truty R, et al. Am J Hum Genet. 2021 Apr 1;108(4):696-708. doi: 10.1016/j.ajhg.2021.03.006. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743207 Free PMC article.

5

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Bowen BM, Truty R, Aradhya S, Bristow SL, Johnson BA, Morales A, Tan CA, Westbrook MJ, Winder TL, Chavez JC. Bowen BM, et al. Among authors: truty r. Front Neurol. 2021 May 6;12:663911. doi: 10.3389/fneur.2021.663911. eCollection 2021. Front Neurol. 2021. PMID: 34025568 Free PMC article.

6

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Truty R, Paul J, Kennemer M, Lincoln SE, Olivares E, Nussbaum RL, Aradhya S. Truty R, et al. Genet Med. 2019 Jan;21(1):114-123. doi: 10.1038/s41436-018-0033-5. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895855 Free PMC article.

7

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.

8

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: truty r. 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.

9

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.

Johnson B, Ouyang K, Frank L, Truty R, Rojahn S, Morales A, Aradhya S, Nykamp K. Johnson B, et al. Among authors: truty r. Am J Med Genet A. 2022 Sep;188(9):2642-2651. doi: 10.1002/ajmg.a.62779. Epub 2022 May 16. Am J Med Genet A. 2022. PMID: 35570716 Free PMC article.

10

Prioritizing genes for systematic variant effect mapping.

Kuang D, Truty R, Weile J, Johnson B, Nykamp K, Araya C, Nussbaum RL, Roth FP. Kuang D, et al. Among authors: truty r. Bioinformatics. 2021 Apr 1;36(22-23):5448-5455. doi: 10.1093/bioinformatics/btaa1008. Bioinformatics. 2021. PMID: 33300982 Free PMC article.

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