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Molecular Genetics & Genomic Medicine|November 29, 2023
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletionsYang Zhao, Yue Hou, Xutong Zhao, et al.Human Mutation|September 13, 2014
Mutation Update for UBE3A variants in Angelman syndromeBekim Sadikovic, Priscilla Fernandes, Victor Wei Zhang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 18, 2012
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous originJing Wang, Hong Cui, Ni-Chung Lee, et al.Frontiers in Genetics|February 5, 2025
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsyHuafang Zou, Qian Zhang, Jianxiang Liao, et al.Journal of Assisted Reproduction and Genetics|August 1, 2025
Screening of triploid in miscarriage tissues using medium-coverage whole genome sequencing with a three-algorithm integrated approachJiayong Zheng, Qian Zhang, Lei Xu, et al.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.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.Pageof 8