Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Author:

Lee Hane1,Deignan Joshua L.1,Dorrani Naghmeh2,Strom Samuel P.1,Kantarci Sibel1,Quintero-Rivera Fabiola1,Das Kingshuk1,Toy Traci1,Harry Bret3,Yourshaw Michael4,Fox Michelle4,Fogel Brent L.5,Martinez-Agosto Julian A.6,Wong Derek A.4,Chang Vivian Y.4,Shieh Perry B.5,Palmer Christina G. S.7,Dipple Katrina M.6,Grody Wayne W.8,Vilain Eric9,Nelson Stanley F.10

Affiliation:

1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles

2. Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles3Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles

3. Institute for Digital Research and Education, University of California, Los Angeles

4. Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles

5. Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles

6. Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles

7. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles7Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles

8. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles3Department of Pediatrics, David Geffen

9. Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles3Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Geffen School of Medicine

10. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge

Publisher

American Medical Association (AMA)

Subject

General Medicine

Cited by 835 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3