小儿癫痫外显子组测序后的基因组测序

IF 20.4 1区医学 Q1 CLINICAL NEUROLOGY

JAMA neurology Pub Date : 2024-10-21 DOI:10.1001/jamaneurol.2024.3582

Alissa M. D’Gama, Wanqing Shao, Lacey Smith, Hyun Yong Koh, Maya Davis, Julia Koh, Brandon T. Oby, Cesar I. Urzua, Beth Rosen Sheidley, Shira Rockowitz, Annapurna Poduri

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引用次数: 0

摘要

这项队列研究考察了2018年8月至2023年5月期间对不明原因癫痫的儿科患者进行非诊断性外显子组测序后基因组测序的收益和使用情况。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Genome Sequencing After Exome Sequencing in Pediatric Epilepsy

This cohort study examined the yield and use of genome sequencing after nondiagnostic exome sequencing for pediatric patients with unexplained epilepsy between August 2018 and May 2023.

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来源期刊

JAMA neurology CLINICAL NEUROLOGY-

CiteScore

41.90

自引率

1.70%

发文量

250

期刊介绍： JAMA Neurology is an international peer-reviewed journal for physicians caring for people with neurologic disorders and those interested in the structure and function of the normal and diseased nervous system. The Archives of Neurology & Psychiatry began publication in 1919 and, in 1959, became 2 separate journals: Archives of Neurology and Archives of General Psychiatry. In 2013, their names changed to JAMA Neurology and JAMA Psychiatry, respectively. JAMA Neurology is a member of the JAMA Network, a consortium of peer-reviewed, general medical and specialty publications.