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Clinical Chemistry and Laboratory Medicine|January 29, 2023
A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technologyMeihong Ren, Guangxin Sun, Xiangsha Kong, et al.Journal of Medical Genetics|October 6, 2018
Mosaicism and incomplete penetrance of <i>PCDH19</i> mutationsAijie Liu, Xiaoxu Yang, Xiaoling Yang, et al.Prenatal Diagnosis|March 15, 2024
A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing lossQian Mu, Ling Bai, Bing Xu, et al.Clinical Genetics|March 28, 2024
Novel copy number variations and phenotypes of infantile epileptic spasms syndromeMiaomiao Cheng, Ling Bai, Ying Yang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 11, 2021
[Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA]Weiqiang Liu, Jiexia Yang, Jun Zhang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 12, 2019
Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screeningMinghao Dang, Hanli Xu, Jingbo Zhang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2019
Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screeningMinghao Dang, Hanli Xu, Jingbo Zhang, et al.Plos Genetics|April 12, 2019
Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individualsBoxun Zhao, Qixi Wu, Adam Yongxin Ye, et al.Journal of Translational Medicine|May 30, 2020
A novel NGS-based microsatellite instability (MSI) status classifier with 9 loci for colorectal cancer patientsKai Zheng, Hua Wan, Jie Zhang, et al.Genomics, Proteomics & Bioinformatics|September 10, 2020
MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human IndividualsXiaoxu Yang, Changhong Yang, Xianing Zheng, et al.Pageof 4