Truty R - Search Results

1

Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.

Rush ET, Johnson B, Aradhya S, Beltran D, Bristow SL, Eisenbeis S, Guerra NE, Krolczyk S, Miller N, Morales A, Ramesan P, Sarafrazi S, Truty R, Dahir K. Rush ET, et al. Among authors: truty r. J Bone Miner Res. 2022 Feb;37(2):202-214. doi: 10.1002/jbmr.4454. Epub 2021 Nov 10. J Bone Miner Res. 2022. PMID: 34633109 Free PMC article.

2

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y. Sarafrazi S, et al. Among authors: truty r. Hum Mutat. 2022 Feb;43(2):143-157. doi: 10.1002/humu.24296. Epub 2021 Dec 5. Hum Mutat. 2022. PMID: 34806794 Free PMC article.

3

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.

4

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.

5

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.

6

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.

7

Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.

Quinn J, Modell V, Holle J, Truty R, Aradhya S, Johnson B, Orange J, Modell F. Quinn J, et al. Among authors: truty r. Immunol Res. 2020 Jun;68(3):126-134. doi: 10.1007/s12026-020-09131-x. Immunol Res. 2020. PMID: 32462469 Free PMC article.

8

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Nykamp K, Truty R, Riethmaier D, Wilkinson J, Bristow SL, Aguilar S, Neitzel D, Faulkner N, Aradhya S. Nykamp K, et al. Among authors: truty r. Hum Mutat. 2021 Sep;42(9):1165-1172. doi: 10.1002/humu.24250. Epub 2021 Jul 10. Hum Mutat. 2021. PMID: 34196078 Free PMC article.

9

Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.

Vatta M, Truty R, Garcia J, Callis TE, Hatchell K, Rojahn S, Morales A, Aradhya S, Nussbaum R. Vatta M, et al. Among authors: truty r. Circ Genom Precis Med. 2021 Feb;14(1):e003206. doi: 10.1161/CIRCGEN.120.003206. Epub 2021 Feb 1. Circ Genom Precis Med. 2021. PMID: 33517668 No abstract available.

10

Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.

Gal DB, Morales A, Rojahn S, Callis T, Garcia J, Priest JR, Truty R, Vatta M, Nussbaum RL, Esplin ED, Hollander SA. Gal DB, et al. Among authors: truty r. Pediatr Cardiol. 2022 Mar;43(3):616-623. doi: 10.1007/s00246-021-02764-1. Epub 2021 Oct 29. Pediatr Cardiol. 2022. PMID: 34714385 Free PMC article.

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