Assessment of whole-exome sequencing results in neurogenetic diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01185-7.pdf
Reference20 articles.
1. Bird TD, Smith CO. Chapter 1 - Clinical approach to the patient with neurogenetic disease. In: Geschwind DH, Paulson HL, Klein C, editors. Handbook of clinical neurology. 1st ed. Amsterdam, The Netherlands: Elsevier; 2018. p. 3–9.
2. Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, et al. Whole exome sequencing in neurogenetic odysseys: an effective, cost- and time-saving diagnostic approach. PLoS ONE. 2018;13:e0191228.
3. Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, et al. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain. 2022;145:1507–18.
4. Parenti I, Rabaneda LG, Schoen H, Novarino G. Neurodevelopmental disorders: from genetics to functional pathways. Trends Neurosci. 2020;43:608–21.
5. Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, et al. Clinical whole exome sequencing in child neurology practice: WES in child neurology. Ann Neurol. 2014;76:473–83.
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