Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
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Published:2024-08
Issue:8
Volume:111
Page:1656-1672
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Gilbert Melissa A.ORCID,
Keefer-Jacques Ernest,
Jadhav Tanaya,
Antfolk Daniel,
Ming Qianqian,
Valente Nicolette,
Shaw Grace Tzun-Wen,
Sottolano Christopher J.,
Matwijec Grace,
Luca Vincent C.,
Loomes Kathleen M.,
Rajagopalan Ramakrishnan,
Hayeck Tristan J.,
Spinner Nancy B.
Reference72 articles.
1. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur;Alagille;J. Pediatr.,1975
2. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia;Crosnier;Clin. Liver Dis.,2000
3. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis;Emerick;Hepatology,1999
4. Alagille syndrome: clinical perspectives;Saleh;Appl. Clin. Genet.,2016
5. Jagged1 mutations in alagille syndrome;Spinner;Hum. Mutat.,2001