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Human Mutation|April 14, 2025
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis ComplexQingqing You, Jingwei Liu, Ran Zhang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 15, 2020
Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2Jianxin Zuo, Wencong Guo, Shujuan Wang, et al.
Frontiers in Genetics|November 30, 2020
Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene AssaySai Wang, Yixiu Wang, Jinchao Wang, et al.
Molecular Genetics & Genomic Medicine|January 4, 2023
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndromeXiaomeng Shi, Hong Wang, Ruixiao Zhang, et al.
Human Mutation|June 22, 2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assayRuixiao Zhang, Zeqing Chen, Qijing Song, et al.
STAR Protocols|June 25, 2021
Protocol to establish a lung adenocarcinoma immunotherapy allograft mouse model with FACS and immunofluorescence-based analysis of tumor responseZhengxin Peng, Man Yu, Jiaming Lin, et al.
Frontiers in Genetics|June 6, 2024
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assayFengjiao Pan, Ruixiao Zhang, Xuyan Liu, et al.
Clinical Genetics|November 27, 2023
Functional analysis of the CTNS gene exonic variants predicted to affect splicingChangying Li, Ruixiao Zhang, Fengjiao Pan, et al.
Renal Failure|September 14, 2020
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case reportRuixiao Zhang, Zeqing Chen, Yanhua Lang, et al.
BMC Genomics|July 19, 2023
Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assayXuyan Liu, Xiaomeng Shi, Qing Xin, et al.
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