Genetic test utilization and diagnostic yield in adult patients with neurological disorders-Reference-Cited by-同舟云学术

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Genetic test utilization and diagnostic yield in adult patients with neurological disorders

Published:2018-03-28 Issue:2 Volume:19 Page:105-110
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Bardakjian Tanya M.,Helbig Ingo,Quinn Colin,Elman Lauren B.,McCluskey Leo F.,Scherer Steven S.,Gonzalez-Alegre Pedro

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-018-0544-x/fulltext.html

Reference14 articles.

1. Guerreiro R, Bras J, Hardy J, Singleton A (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet 23(R1):R47–R53. https://doi.org/10.1093/hmg/ddu203

2. Kutscher EJ, Joshi SM, Patel AD, Hafeez B, Grinspan ZM (2017) Barriers to genetic testing for pediatric Medicaid beneficiaries with epilepsy. Pediatr Neurol 73:28–35. https://doi.org/10.1016/j.pediatrneurol.2017.04.014

3. Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG (2012) Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 4(138):138ra178. https://doi.org/10.1126/scitranslmed.3003544

4. Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF (2014) Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol 71(10):1237–1246. https://doi.org/10.1001/jamaneurol.2014.1944

5. van Egmond ME, Lugtenberg CHA, Brouwer OF, Contarino MF, Fung VSC, Heiner-Fokkema MR, van Hilten JJ, van der Hout AH, Peall KJ, Sinke RJ, Roze E, Verschuuren-Bemelmans CC, Willemsen MA, Wolf NI, Tijssen MA, de Koning TJ (2017) A post hoc study on gene panel analysis for the diagnosis of dystonia. Mov Disord 32(4):569–575. https://doi.org/10.1002/mds.26937

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1. The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting;Journal of the Neurological Sciences;2024-08

2. Attitudes of Parents of Children with Rare Neurological Disorders Toward Clinical Genetic Testing;2023-08-23

3. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics;American Journal of Medical Genetics Part A;2022-11-19

4. Genetic diagnosis for adult patients at a genetic clinic;Molecular Case Studies;2022-10-20

5. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress;Epilepsia;2022-07-17

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