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JAMA Network Open|September 1, 2023
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn ScreeningTing Chen, Chunna Fan, Yonglan Huang, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic studySumin Zhao, Wanyang Wang, Yaoshen Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 21, 2019
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in ChinaQiuju Wang, Jiale Xiang, Jun Sun, et al.
European Journal of Human Genetics : EJHG|October 3, 2018
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couplesSumin Zhao, Jiale Xiang, Chunna Fan, et al.
NPJ Digital Medicine|January 27, 2025
Multimodal machine learning enables AI chatbot to diagnose ophthalmic diseases and provide high-quality medical responsesRuiqi Ma, Qian Cheng, Jing Yao, et al.
Nature Communications|December 10, 2015
Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomasKui Wu, Xin Zhang, Fuqiang Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 9, 2018
[Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry]Hui Huang, Yiping Shen, Weihong Gu, et al.
Genome Research|June 22, 2013
Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinomaZhengyan Kan, Hancheng Zheng, Xiao Liu, et al.
Ebiomedicine|September 4, 2017
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with HemoglobinopathiesXuan Shang, Zhiyu Peng, Yuhua Ye, et al.
Nature|October 16, 2015
Telomerase activation by genomic rearrangements in high-risk neuroblastomaMartin Peifer, Falk Hertwig, Frederik Roels, et al.
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