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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf
Clinical and genetic analysis in Chinese children with Alagille syndrome.
Chen Y et al.
Bmc Pediatrics, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
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
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Warejko JK et al.
Hypertension (dallas, Tex. : 1979), 2018
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities.
Liu Y et al.
Current Medical Science, 2018
A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.
Wang NL et al.
Plos One, 2016
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.
Boyer J et al.
Human Genetics, 2005
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML et al.
Human Mutation, 2000
Select a paper to view details