Huan Li

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

Yi-wu Shi, N. He, Jie Wang, 2022, Frontiers in Molecular Neuroscience.

Generation of three iPSC lines (XACHi007-A, XACHi008-A, XACHi009-A) from a Chinese family with long QT syndrome type 5 with heterozygous c.226G>A (p.D76N) mutation in KCNE1gene.

X. Tan, Yanmin Zhang, Huan Li, 2020, Stem cell research.

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene

Yanmin Zhang, Ying Yang, Bailing Liu, 2020, Frontiers in Pediatrics.

Establishment of iPSC line from a Chinese infant (XACHi012-A) with Jervell and Lange-Nielsen syndrome carrying combined KCNQ1 frameshift c.431delC(p.I145Sfs*92) and nonsense c.1175G > A (p.W392X) variants and two iPSC lines from the parents (XACHi013-A, XACHi014-A).

X. Tan, Yanmin Zhang, Anmao Li, 2021, Stem cell research.

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

Xin Li, Xin Li, Xiao-Rong Liu, 2022, Frontiers in Molecular Neuroscience.

Fucoidan Alleviates Renal Fibrosis in Diabetic Kidney Disease via Inhibition of NLRP3 Inflammasome-Mediated Podocyte Pyroptosis

B. Wan, Y. Wan, Y. Tu, 2022, Frontiers in Pharmacology.

Rett syndrome with atrial tachycardia in a girl

Yuehua Wu, Huan Li, Yanmin Zhang, 2022, Pediatric Investigation.