L. Yi

Minigene assay as an effective molecular diagnostic strategy in determining the pathogenicity of non-canonical splice-site variants in FLCN.

Jie Chen, Yibing Ding, D. Ma, 2022, The Journal of molecular diagnostics : JMD.

Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing

Xiangliang Chen, Xinxin Zhang, Shaoping Huang, 2022, Journal of Human Genetics.

The (TTTA)n polymorphism in intron 4 of CYP19 and the polycystic ovary syndrome risk in a Chinese population

X. Zhang, X. X. Zhang, Y. Xia, 2013, Molecular Biology Reports.

Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China

J. Ryu, Wei Wei, Guofeng Zhang, 2022, Orphanet Journal of Rare Diseases.

Identification of a novel splicing mutation and genotype–phenotype correlations in rare PLS3-related childhood-onset osteoporosis

Y. Qiu, Zezhang Zhu, Leilei Xu, 2022, Orphanet Journal of Rare Diseases.