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Diagnostics
Original research
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Authors

  • Sen Zhao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Yuanqiang Zhang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Weisheng Chen Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Weiyu Li Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Shanghai, China PubMed articlesGoogle scholar articles
  • Shengru Wang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Lianlei Wang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Yanxue Zhao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Mao Lin Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Yongyu Ye Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Department of Orthopedic Surgery, First Affiliated Hospital of Sun Yat-sen University, Sun Yat-sen University, Guangzhou, China PubMed articlesGoogle scholar articles
  • Jiachen Lin Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Yu Zheng School of Finance, Southwestern University of Finance and Economics, Chengdu, Sichuan, China PubMed articlesGoogle scholar articles
  • Jiaqi Liu Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Department of Breast Surgical Oncology, National Cancer Center/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Hengqiang Zhao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China School of Ophthalmology & Optometry and Eye Hospital, School of BiomedicalEngineering, Wenzhou Medical University, Wenzhou, Zhejiang, China PubMed articlesGoogle scholar articles
  • Zihui Yan Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Graduate School, Peking Union Medical College, Beijing, China PubMed articlesGoogle scholar articles
  • Yongxin Yang Machine Intelligence Group, University of Edinburgh, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Yingzhao Huang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Guanfeng Lin Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Zefu Chen Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Zhen Zhang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Sen Liu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Lichao Jin Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Zhaoyang Wang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Jingdan Chen Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Yuchen Niu Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Medical Research Center, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Xiaoxin Li Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Medical Research Center, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Yong Wu Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Yipeng Wang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Renqian Du Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Na Gao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Hong Zhao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Ying Yang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Ying Liu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Ye Tian Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Wenli Li Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Yu Zhao Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Jia Liu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Bin Yu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Na Zhang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Keyi Yu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Xu Yang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Shugang Li Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Yuan Xu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Jianhua Hu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Zhe Liu Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Jianxiong Shen Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China PubMed articlesGoogle scholar articles
  • Shuyang Zhang Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Department of Cardiology, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Jianzhong Su School of Ophthalmology & Optometry and Eye Hospital, School of BiomedicalEngineering, Wenzhou Medical University, Wenzhou, Zhejiang, China PubMed articlesGoogle scholar articles
  • Anas M Khanshour Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Yared H Kidane Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Brandon Ramo Department of Orthopaedic Surgery, Scottish Rite for Children, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Jonathan J Rios Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Pengfei Liu Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • V. Reid Sutton Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Baylor Genetics, Houston, Texas, USA Texas Children's Hospital, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Jennifer E Posey Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Zhihong Wu Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China Medical Research Center, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Guixing Qiu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China Medical Research Center, Peking Union Medical College Hospital, Peking UnionMedical College and Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Carol A Wise Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA McDermott Center for Human Growth and Development, Department of Pediatrics and Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Feng Zhang Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Shanghai, China PubMed articlesGoogle scholar articles
  • James R Lupski Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Texas Children's Hospital, Houston, Texas, USA Departments of Pediatrics, Baylor College of Medicine, Houston, Texas, USA Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Jianguo Zhang Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  • Nan Wu Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Key Laboratory of Big Data for Spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Nan Wu, Department of orthopaedic surgery; Beijing Key Laboratory for Genetic Research of Skeletal Deformity; Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; dr.wunan{at}pumch.cn; Dr Jianguo Zhang, Department of orthopaedic surgery; Beijing Key Laboratory for Genetic Research of Skeletal Deformity; Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; zhangjianguo{at}pumch.cn
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Citation

Zhao S, Zhang Y, Chen W Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, et al
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Journal of Medical Genetics 2021;58:41-47.

Publication history

  • Received December 29, 2019
  • Revised February 17, 2020
  • Accepted March 13, 2020
  • First published May 7, 2020.
Online issue publication 
December 11, 2020

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