Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Author:

Calvo Sarah E.123,Compton Alison G.4,Hershman Steven G.123,Lim Sze Chern45,Lieber Daniel S.123,Tucker Elena J.45,Laskowski Adrienne4,Garone Caterina67,Liu Shangtao1,Jaffe David B.3,Christodoulou John89,Fletcher Janice M.1011,Bruno Damien L.412,Goldblatt Jack13,DiMauro Salvatore6,Thorburn David R.4512,Mootha Vamsi K.123

Affiliation:

1. Center for Human Genetic Research and Department of Molecular Biology, Massachusetts General Hospital, 185 Cambridge Street, Sixth Floor, Boston, MA 02114, USA.

2. Department of Systems Biology, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA.

3. Broad Institute of Harvard and Massachusetts Institute of Technology, 7 Cambridge Center, Cambridge, MA 02141, USA.

4. Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia.

5. Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.

6. Department of Neurology, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY 10032, USA.

7. Human Genetics Joint PhD Programme, University of Turin, 10125 Turin, Italy and University of Bologna, 40125 Bologna, Italy.

8. Genetic Metabolic Disorders Research Unit, Children’s Hospital at Westmead, 212 Hawkesbury Road, Westmead, NSW 2145, Australia.

9. Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia.

10. Department of Genetics and Molecular Pathology, 72 King William Road, North Adelaide, SW 5006, Australia.

11. Discipline of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia.

12. Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, VIC 3052, Australia.

13. Genetic Services of Western Australia, King Edward Memorial Hospital, University of Western Australia, Perth, WA 6009, Australia.

Abstract

Applying next-generation sequencing to 42 infants with mitochondrial disease highlights both the potential and the challenge of using this technology in clinical diagnosis.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Cited by 395 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