Renchao Liu
Fudan University
14 Papers
3 Citations
Renchao Liu is an academic researcher from Fudan University. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 3, co-authored 10 publications.
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Papers
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 +13 more
TL;DR: With a higher diagnostic rate, more comprehensive observation of variations and lower cost compared with conventional strategies, simultaneous analysis of CNVs and SNVs based on CES showed potential as a new first-tier choice to diagnose DD.
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Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Bingbing Wu,Wenqing Kang,Yingyuan Wang,Deyi Zhuang,Liping Chen,Long Li,Yajie Su,Xinnian Pan,Qiufen Wei,Zezhong Tang,Yangfang Li,Jin Gao,Rui Cheng,Wei Zhou,Zhangxing Wang,Gang Qiu,Jian Wang,Lin Yang,Ping Zhang,Xuemei Zhao,Yao Wang,Mingyu Gan,Gang Li,Renchao Liu,Qi Ni,Feifan Xiao,Kai Yan,Yun Cao,Guoping Lu,Yulan Lu,Huijun Wang,Wenhao Zhou +31 more
TL;DR: In this paper, the diagnostic and clinical utility of the trio-rapid genome sequencing in critically ill infants was evaluated in 13 member hospitals of the China Neonatal Genomes Project spanning 10 provinces.
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Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project
Huijun Wang,Feifan Xiao,Xinran Dong,Yulan Lu,Guoqiang Cheng,Lai-Shuan Wang,Wei Lu,Lin Yang,Liping Chen,Wenqing Kang,Long Li,Xinnian Pan,Qiufen Wei,Deyi Zhuang,Dongmei Chen,Zhaoqing Yin,Ling Yang,Qi Ni,Renchao Liu,Gang Li,Ping Zhang,Yanyan Qian,Xu Li,Xiaomin Peng,Yao Wang,Fang Liu,Dahui Wang,Hao Li,Chun Shen,Liling Qian,Yun Cao,Bingbing Wu,Wenhao Zhou,Wenhao Zhou +33 more
TL;DR: In this article, the authors investigated the genetic causes and characteristics of clinical outcomes in a large cohort of neonates with multiple congenital anomalies (MCAs) at birth, and showed that both CNVs and SNVs contribute to the genetic cause of MCAs, and earlier genetic assertion may lead to better clinical management for patients.
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First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
TL;DR: Congenital myasthenic syndrome 22 (CMS22) is a rare autosomal recessive disorder due to isolated PREPL deficiency and characterized by neonatal hypotonia, muscular weakness, and feeding difficulties.
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A Novel 1.0 Mb Duplication of Chromosome 8p22-21.3 in a Patient With Autism Spectrum Disorder
Ping Dong,Qiong Xu,Yu An,Bingrui Zhou,Ping Lu,Renchao Liu,Xiu Xu +6 more
- 01 Apr 2015
TL;DR: This study presents the clinical and array-based comparative genomic hybridization evaluation of a 4-year-old male with autism spectrum disorder and mental retardation, and finds that the patient was found to carry a de novo duplication of chromosome 8p22-21.
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