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Experimental and Therapeutic Medicine|June 11, 2016
Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotypeNiu Li, Y U Ding, Tingting Yu, et al.
American Journal of Medical Genetics. Part A|September 26, 2017
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short statureNiu Li, Guoying Chang, Yufei Xu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 10, 2021
[Analysis of ALMS1 gene variants in seven patients with Alström syndrome]Yu Ding, Qianwen Zhang, Yingzhong He, et al.
International Journal of Molecular Sciences|April 20, 2017
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase DeficiencyNiu Li, Guoying Chang, Yufei Xu, et al.
Cell Reports|November 9, 2022
NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair stepNiu Li, Yufei Xu, Hongzhu Chen, et al.
Biomed Research International|July 18, 2022
Transcriptomic Insight into Viviparous Growth in Water LilyQun Su, Hong-Yan Wang, Min Tian, et al.
Orphanet Journal of Rare Diseases|February 3, 2025
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorderMing Li, Jingqi Lin, Hongjun Fei, et al.
Orphanet Journal of Rare Diseases|November 23, 2019
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contractureNiu Li, Yufei Xu, Yi Zhang, et al.
Clinical Chemistry|November 9, 2025
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD DuplicationsJin Sun, Jie Tang, Lu Wei, et al.
Frontiers in Genetics|August 8, 2022
Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9Yu Ding, Jiande Chen, Yijun Tang, et al.
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