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: mmc4.xlsx › Sheet1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.
Klemke L et al.
Frontiers in Oncology, 2021
34178628 (PubMed )
Supplement: DataSheet_1.pdf
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_
Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.
Safari-Arababadi A et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2018
Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method.
Huang T et al.
Molecular Medicine Reports, 2017
Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.
Muñoz-Aguilar G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
Li L et al.
Plos One, 2015
Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.
Vázquez-Martínez ER et al.
Meta Gene, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
Warthen DM et al.
Human Mutation, 2006
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
Eldadah ZA et al.
Human Molecular Genetics, 2001
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