Associated Papers
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
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 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
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A et al.
Npj Breast Cancer, 2019
31428676 (PubMed )
Supplement: 41523_2019_115_MOESM1_ESM.pdf
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
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