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BJOG : an International Journal of Obstetrics and Gynaecology|May 23, 2025
Prenatal Diagnosis of Foetal Structural Anomalies Using Medium-Coverage Whole Genome Sequencing (CMA-Seq): A Large-Scale Comparative Study With CMA in 3973 PregnanciesYan Jiang, Fang Liu, Lijuan Zhong, et al.
Annals of Translational Medicine|November 4, 2021
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypesXiaoyang Li, Yongsheng Zheng, Shaoyuan Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 10, 2012
An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experienceJing Wang, Eric S Schmitt, Megan L Landsverk, et al.
Prenatal Diagnosis|January 30, 2020
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy managementJin Han, Yan-Dong Yang, Yi He, et al.
Frontiers in Genetics|December 30, 2021
Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High MyopiaDejian Yuan, Tizhen Yan, Shiqiang Luo, et al.
International Journal of Environmental Research and Public Health|July 2, 2021
Emergency Department Referral for Hospice and Palliative Care Differs among Patients with Different End-of-Life Trajectories: A Retrospective Cohort StudyVictor Wei-Che Shen, Che Yang, Li-Ling Lai, et al.
Molecular Genetics and Metabolism|May 11, 2013
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromesMatthew S Comeaux, Jing Wang, Guoli Wang, et al.
Frontiers in Genetics|July 19, 2021
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From ChinaHui-Ming Yan, Zhi-Mei Liu, Bei Cao, et al.
Prenatal Diagnosis|July 20, 2024
Customizing carrier screening in the Chinese population: Insights from a 334-gene panelSha Liu, Shuang Huang, Victor Wei Zhang, et al.
Journal of Medical Genetics|April 3, 2026
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rateSha Liu, Liyuan Cao, Victor Wei Zhang, et al.
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