Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study-Reference-Cited by-全球学者库

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Published:2022-03 Issue:5 Volume:43 Page:568-581
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sun Yu¹²^ORCID,Peng Jing³⁴,Liang Desheng⁵,Ye Xiantao¹²,Xu Na¹²,Chen Linlin¹²,Yan Dan¹²,Zhang Huiwen¹²^ORCID,Xiao Bing¹²,Qiu Wenjuan¹²^ORCID,Shen Yiping⁶,Pang Nan³⁴,Liu Yingdi⁵,Liang Chen⁷,Qin Zailong⁶,Luo Jingsi⁶,Chen Fei⁶,Wang Jingmin⁸,Zhang Zhixin⁹,Wei Haiyan¹⁰,Du Juan¹¹,Yan Huifang⁸^ORCID,Duan Ruoyu⁸,Wang Junyu⁸,Zhang Yu⁸,Liao Shixiu¹²^ORCID,Sun Kun¹³,Wu Lingqian⁵,Yu Yongguo¹²^ORCID

Affiliation:

1. Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China

2. Department of Molecular Genetics Shanghai Institute for Pediatric Research Shanghai China

3. Department of Pediatrics, Xiangya Hospital Central South University Changsha China

4. Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital Central South University Changsha China

5. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University Changsha China

6. Genetic and Metabolic Central Laboratory Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning China

7. Department of Medical Genetics Jiangmen Maternity and Child Health Care Hospital Jiangmen China

8. Department of Pediatrics Peking University First Hospital Beijing China

9. Department of Pediatrics China–Japan Friendship Hospital Beijing China

10. Department of Endocrinologic and Inherited Metabolic Childen's Hospital affiliated to Zhengzhou University Zhengzhou China

11. Reproductive and Genetic Hospital of CITIC‐Xiangya Changsha China

12. Department of Obstetrics and Gynecology Henan Provincial People's Hospital Zhengzhou China

13. Department of Clinical Genetics, Xinhua Hospital, School of Medicine Shanghai Jiao Tong University Shanghai China

Funder

Shanghai Shen Kang Hospital Development Center

National Natural Science Foundation of China

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24347

Reference38 articles.

1. Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo -β- N -acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease

2. Genomic diagnosis for children with intellectual disability and/or developmental delay

3. Developmental delay: identification and management at primary care level

4. Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays

5. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

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