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Analytical Chemistry|February 9, 2022
Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular AtrophyChianru Tan, Yousheng Yan, Na Guo, et al.Stem Cell Research|July 24, 2025
Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH geneYu Wang, Lisha An, Huimin Gao, et al.ACS Omega|February 11, 2020
Screening of <i>PAH</i> Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MSYousheng Yan, Xiaohua Jin, Xing Wang, et al.Journal of Clinical Laboratory Analysis|April 16, 2020
A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim SyndromeYa Tan, Ling Duan, Kai Yang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 9, 2026
[Genetic analysis and prenatal diagnosis of structural brain abnormalities associated with TUBB gene c.155A>G variant]Yifan Liu, Wei Song, Xinlian Wang, et al.Journal of Medical Internet Research|May 28, 2026
Adaptive Fast-Slow Large Language Model Framework for Multidimensional Classification of Prenatal Ultrasound Reports: Comparative StudyWei Zhong, Huihui Yan, Yifan Liu, et al.Current Eye Research|June 20, 2020
Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous AlbinismZhang Chuan, Yousheng Yan, Shengju Hao, et al.Human Mutation|November 8, 2021
Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuriaXiaohua Jin, Yousheng Yan, Chuan Zhang, et al.Journal of Healthcare Engineering|April 25, 2022
Machine Learning-Based Prediction Model of Preterm Birth Using Electronic Health RecordQi Sun, Xiaoxuan Zou, Yousheng Yan, et al.Journal of Medical Systems|April 30, 2026
Open-Source Large Language Models Distilled DeepSeek-R1 Pose Challenges for On-Premises Clinical Deployment in Medical Diagnosis: A Comparative Study of PerformanceWei Zhong, Yiyao Fu, Dingchuan Peng, et al.Pageof 4