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Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families A Proof-of-Concept Stud
Author: Wu, Lihua; Lin, Yunqi; Gao, Bo; Zhu, Biyin; Dai, Pu; Huang, Shaopeng
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 4, pp. 345-353. DOI: 10.1016/j.jmoldx.2025.12.005
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A Laboratory-Adaptive Dynamic Quality Control Framework Reduces Targeted Capture Sequencing Failure in Solid Tumors by >90% A Scalable Solution for Clinical Genomic
Author: Wu, Jiang; Zhao, Jie; Wang, Xiaofeng; Shen, Yifan; Liao, Xin; Yang, Zihan; Jiang, Shan; Li, Fan; Cheng, Wei; Chen, Lixue; Chen, Xueping
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 3, pp. 308-320. DOI: 10.1016/j.jmoldx.2025.12.003
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Allele, Diplotype, and Phenotype Frequency Distribution of CYP2B6, CYP2C19, and CYP2D6 in the Han Population in North Chin
Author: Luan, Yueyao; Sun, Qixuan; Wang, Yiyuan; Tong, Binliang; Duan, Liguang; Wang, Jiaqi; Yan, Yuhang; Chen, Chaoli; Lun, Yang; Yu, Jing; Zhao, Yuanyuan; Zhao, Mengqiang; Zhou, Chunhua
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 3, pp. 252-263. DOI: 10.1016/j.jmoldx.2025.11.007
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Functional Analysis of Four Splice-Site Variants, including a Novel Variant, on Antigen Expression and ABO Subgroup Formatio
Author: Yang, Huayue; Long, Dan; Lei, Hang; Guo, Liujun; Gao, Chengyan; Hao, Haoyu; Li, Jiaming; Wang, Xuefeng; Wu, Xi; Dai, Jing; Lou, Can; Cai, Xiaohong
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 2, pp. 170-178. DOI: 10.1016/j.jmoldx.2025.10.007
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A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular Atroph
Author: Li, Shuyuan; Liu, Bailing; Zhang, Jingfan; Tang, Ning; Hua, Renyi; Yang, Jinling; Huang, Xingling; Li, Haoxian; Mao, Aiping; Chen, Libao; Huang, Jiwei; Wang, Yanlin
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 2, pp. 136-146. DOI: 10.1016/j.jmoldx.2025.10.009
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A Comparative Study of Split Read- and Read Depth-Based DNA Sequencing Approache
Author: Chen, Nan; Feng, Jingjing; Wan, Dong; Li, Dongbing; Xiao, Sheng
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 2, pp. 179-186. DOI: 10.1016/j.jmoldx.2025.11.002
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Enhanced Comprehension of the Pathogenicity of Splicing Variants: Evidence from a Range of in Vitro and in Vivo Functional Assay
Author: Xu, Yan; Hu, Bin; Han, Xu; Chen, Yiyao; Lin, Jingqi; Wang, Yanlin; Wang, Jian; Li, Niu; Li, Shuyuan
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 1, pp. 75-84. DOI: 10.1016/j.jmoldx.2025.10.006
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Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohor
Author: Kwong, Ava; Ho, Cecilia Y. S.; Leung, Henry C. M.; Leung, Amy W. S.; Au, Chun Hang; Ma, Edmond S. K
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS. 2026; Vol. 28, Issue 1, pp. 8-21. DOI: 10.1016/j.jmoldx.2025.09.005
