Associated Papers
Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.
Keefer-Jacques E et al.
Hgg Advances, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome.
Ponikowska M et al.
Bmc Medical Genetics, 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
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML et al.
Human Mutation, 2000
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