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
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.
Yan J et al.
Bmc Pediatrics, 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
Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.
Buhl N et al.
Clinical Genetics, 2022
Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome.
Chen Y et al.
Frontiers in Genetics, 2019
32038717 (PubMed )
Supplement: Table_2.pdf
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
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