Jia-qi Li - Publications

Isomerization-Regulated Multiresonance Molecules for Achievement of Long-Wavelength Electroluminescence with Reduced Shoulder Vibronic Emission.

Journal: The journal of physical chemistry letters

Published: February 16, 2026

Liver transcriptome sequencing contributes to the molecular diagnosis of genetic liver diseases.

Journal: Hepatology (Baltimore, Md.)

Published: October 11, 2025

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations.

Journal: Journal of medical genetics

Published: January 21, 2025

Clinical features and long-term outcomes of patients with ZFYVE19 variants.

Journal: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

Published: September 03, 2024

Research advances in pharmacotherapy for rare diseases in children

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 02, 2023

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

Journal: Frontiers in pediatrics

Published: June 07, 2023

Rapid Discrimination of Clinically Important Pathogens Through Machine Learning Analysis of Surface Enhanced Raman Spectra.

Journal: Frontiers in microbiology

Published: December 25, 2021

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

Journal: Journal of medical genetics

Published: November 17, 2019

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

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: October 31, 2019

TJP2 hepatobiliary disorders: Novel variants and clinical diversity.

Journal: Human mutation

Published: August 10, 2019

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

Journal: Human mutation

Published: December 29, 2018

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

Journal: American journal of human genetics

Published: December 28, 2018