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
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B et al.
American Journal of Human Genetics, 2019
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.
Jurkiewicz D et al.
Human Mutation, 2005
Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD et al.
Human Molecular Genetics, 2001
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