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
{"title":"小儿癫痫外显子组测序后的基因组测序","authors":"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","doi":"10.1001/jamaneurol.2024.3582","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":14677,"journal":{"name":"JAMA neurology","volume":null,"pages":null},"PeriodicalIF":20.4000,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genome Sequencing After Exome Sequencing in Pediatric Epilepsy\",\"authors\":\"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\",\"doi\":\"10.1001/jamaneurol.2024.3582\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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.\",\"PeriodicalId\":14677,\"journal\":{\"name\":\"JAMA neurology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":20.4000,\"publicationDate\":\"2024-10-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JAMA neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1001/jamaneurol.2024.3582\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JAMA neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1001/jamaneurol.2024.3582","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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.
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.