Jian‐She Wang

机构：Children's Hospital of Fudan University · ORCID：0000-0003-0823-586X

发表论文 185 篇 · 总被引 2399 次 · h-index 26

代表论文

• ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death (2024 · Journal of Medical Genetics · 被引 6)
• NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death (2024 · Orphanet Journal of Rare Diseases · 被引 6)
• Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease (2024 · Molecular Genetics and Metabolism · 被引 6)
• Phenotypic Divergence of JAG1 ‐ and NOTCH2 ‐Associated Alagille Syndrome & Disease‐Specific NOTCH2 Variant Classification Guidelines (2025 · Liver International · 被引 4)
• A liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism (2025 · Biochemical and Biophysical Research Communications · 被引 4)
• Loss of hepatocyte Usp53 protects mice from a form of xenobiotic-induced liver injury (2024 · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 被引 4)