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
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
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
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP et al.
Human Mutation, 2001
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