Associated Papers
ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence.
Wang Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
39823538 (PubMed )
Supplement: ADVS-12-2410414-s003.xlsx › Sheet1
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
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.
Zhao H et al.
Protein & Cell, 2024
38695759 (PubMed )
Supplement: pwae021_suppl_supplementary_figures_s1-s10_tables_s1-s2.pdf
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 › Benign_Variant_Truth_Set
Membranous aplasia cutis congenita: A rare case report highlighting clinical presentation, genetic insights, and the need for comprehensive evaluation.
She QY et al.
Heliyon, 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
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Zhang RJ et al.
Clinical Endocrinology, 2022
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities.
Liu Y et al.
Current Medical Science, 2018
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