Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

Xinran Dong; Bo Liu; Lin Yang; Huijun Wang; Bingbing Wu; Renchao Liu; Hongbo Chen; Xiang Chen; Sha Yu; Bin Chen; Sujuan Wang; Xiu Xu; Wenhao Zhou; Yulan Lu

doi:10.1136/jmedgenet-2019-106377

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

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Xinran Dong Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China PubMed articles Google scholar articles
Bo Liu Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China PubMed articles Google scholar articles
Lin Yang Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Huijun Wang Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Bingbing Wu Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China Clinical Genetic Center, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Renchao Liu Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Hongbo Chen Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Xiang Chen Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Sha Yu Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Bin Chen Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Sujuan Wang Department of Rehabilitation, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Xiu Xu Division of Child Health Care, Children’s Hospital of Fudan University, Shanghai, China PubMed articles Google scholar articles
Wenhao Zhou Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China PubMed articles Google scholar articles
Yulan Lu Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China PubMed articles Google scholar articles

Correspondence to Yulan Lu, Children's Hospital & Institutes of Biomedical Sciences, Fudan University, Shanghai 201102, China; yulanlu{at}fudan.edu.cn

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Dong X, Liu B, Yang L, et al

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

Journal of Medical Genetics 2020;57:558-566.

Publication history

Received June 16, 2019
Revised January 8, 2020
Accepted January 11, 2020
First published January 31, 2020.

Online issue publication

July 23, 2020

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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