Jia-Qi Li

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome

Jian-She Wang, Teng Liu, Jia-qi Li, 2019, Human mutation.

Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis

C. Borchers, V. Ling, B. Sipos, 2017, Hepatology.

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

Q. Xia, Yi Lu, Jian-She Wang, 2020, Journal of Medical Genetics.

Recurrent acute liver failure associated with novel SCYL1 mutation: A case report

Jian-She Wang, Jia-qi Li, J. Gong, 2019, World journal of clinical cases.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

H. Prokisch, Ryan J Schulze, M. McNiven, 2019, American journal of human genetics.

Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study

Yi Lu, Jian-She Wang, Jia-qi Li, 2017, BMC Gastroenterology.

A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report

Lian Chen, Yi Lu, Jian-She Wang, 2018, BMC Gastroenterology.

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Yi Lu, Jian-She Wang, Jia-qi Li, 2020, Liver international : official journal of the International Association for the Study of the Liver.

Case report: Novel DGUOK variants associated with idiopathic non-cirrhotic portal hypertension in a Han Chinese child

Jia-Qi Li, Jia-Yan Feng, Ying Gong, 2023, Frontiers in Pediatrics.