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The Journal of Molecular Diagnostics : JMD|February 5, 2023
Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase DeficiencyJing Zhao, Yi-Ling Qiu, Li Wang, et al.Human Mutation|September 4, 2019
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndromeYi-Ling Qiu, Teng Liu, Kuerbanjiang Abuduxikuer, et al.Liver International : Official Journal of the International Association for the Study of the Liver|May 14, 2022
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patientsZhong-Die Li, Kuerbanjiang Abuduxikuer, Li Wang, et al.Hepatology (Baltimore, Md.)|March 19, 2026
Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseasesYe Cheng, Zhong-Die Li, Zhi-Hong Guan, et al.Liver International : Official Journal of the International Association for the Study of the Liver|November 23, 2021
MYO5B-associated diseases: Novel liver-related variants and genotype-phenotype correlationLi Wang, Yi-Ling Qiu, Hong-Mei Xu, et al.Hepatology (Baltimore, Md.)|November 22, 2019
A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B MutationsArend W Overeem, Qinghong Li, Yi-Ling Qiu, et al.Journal of Cellular Physiology|May 27, 2022
Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosisYi-Ling Qiu, Li Wang, Min Huang, et al.Plos One|October 6, 2016
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/DeletionsNeng-Li Wang, Yu-Lan Lu, Ping Zhang, et al.World Journal of Clinical Cases|May 18, 2021
Pediatric Wilson disease presenting as acute liver failure: Prognostic indicesWei-Yuan Fang, Kuerbanjiang Abuduxikuer, Peng Shi, et al.Human Mutation|November 8, 2019
TJP2 hepatobiliary disorders: Novel variants and clinical diversityJing Zhang, Lang-Li Liu, Jing-Yu Gong, et al.Pageof 3