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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2020
Interpretation of mitochondrial tRNA variantsLee-Jun C Wong, Ting Chen, Jing Wang, et al.
The Journal of Molecular Diagnostics : JMD|June 7, 2025
A Comparative Study of Medium-Coverage Genome Sequencing and SNP Array Technology in Identifying Chromosomal Abnormalities to Advance Prenatal and Postnatal DiagnosisJialun Pang, Lin Zhou, Jiancheng Hu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2015
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation typesJing Wang, Hui Yu, Victor Wei Zhang, et al.
Mitochondrion|January 5, 2021
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophyZhimei Liu, Masaru Shimura, Li Zhang, et al.
Endocrine Connections|October 24, 2018
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasiaQiuli Liu, Lin-Ang Wang, Jian Su, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patientShuo Tang, Jieyu You, Li Liu, et al.
Genes|December 1, 2020
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal KaryotypesQingwei Qi, Yulin Jiang, Xiya Zhou, et al.
The Journal of Molecular Diagnostics : JMD|September 1, 2015
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2Jianli Li, Hongzheng Dai, Yanming Feng, et al.
Frontiers in Genetics|September 7, 2021
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic DisordersXuejun Ouyang, Yu Zhang, Lijuan Zhang, et al.
Taiwanese Journal of Obstetrics & Gynecology|May 18, 2020
L1CAM mutations in three fetuses diagnosed by medical exome sequencingYing-Ting Li, Jing-Si Chen, Wei Jian, et al.
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