Associated Papers
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.
Gusarova EA et al.
Journal of Human Genetics, 2026
Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations.
Chen L et al.
Translational Pediatrics, 2024
39823011 (PubMed )
Supplement: tp-13-12-2144-supplementary.pdf
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome.
Wang H et al.
Gene, 2012
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch R et al.
Journal of Medical Genetics, 2010
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Warthen DM et al.
Human Mutation, 2006
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