Leping Shao

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 15

Top Topics

Circulating Tumor Cells

Intellectual Disability

Top Venues

Nephrology (Carlton, Vic.)

Molecular genetics & genomic medicine

BMC medical genomics

This page only lists publications with an associated author ORCID identifier.

Publications

Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. Molecular genetics & genomic medicine 12 (2) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) (2024)
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. Molecular genetics & genomic medicine 12 (2) (2024)
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Molecular genetics & genomic medicine (2023)
Wencong Guo, Yingfei Shao, Yanhua Lang, Hong Wang, Yi Lin, Xuyan Liu, Ruixiao Zhang, Leping Shao
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. Nephrology (Carlton, Vic.) 27 (10) (2022)
Yingfei Shao, Ming An, Xiaomeng Shi, Leping Shao
Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype. Nephrology (Carlton, Vic.) 27 (11) (2022)
Xiangzhong Zhao, Aihua Sui, Li Cui, Zhiying Liu, Ruixiao Zhang, Yue Han, Leping Shao
A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report. Clinical case reports 10 (11) (2022)
Wencong Guo, Qijing Song, Ruixiao Zhang, Qing Xin, Zhiying Liu, Yanhua Lang, Xiangzhong Zhao, Leping Shao
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Clinical genetics 100 (4) (2021)
Zhiying Liu, Sai Wang, Ruixiao Zhang, Cui Wang, Jingru Lu, Leping Shao
A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report. BMC medical genomics 14 (1) (2021)
Xiangzhong Zhao, Jingru Lu, Yanxia Gao, Xiaoling Wang, Yanhua Lang, Leping Shao
Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report. BMC nephrology 19 (1) (2018)
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao
Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report. BMC medical genetics 19 (1) (2018)
Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. BMC nephrology 19 (1) (2018)