Associated Papers
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
39043182 (PubMed )
Supplement: mmc3.xlsx › Pathogenic_Variant_Truth_Set
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
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D et al.
Journal of Applied Genetics, 2014
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A et al.
Human Mutation, 2003
Select a paper to view details