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Liver International : Official Journal of the International Association for the Study of the Liver|February 8, 2018
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlationsTeng Liu, Ren-Xue Wang, Jun Han, et al.Hepatology (Baltimore, Md.)|December 28, 2016
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasisYi-Ling Qiu, Jing-Yu Gong, Jia-Yan Feng, et al.Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.American Journal of Human Genetics|June 18, 2019
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesMargot A Cousin, Erin Conboy, Jian-She Wang, et al.Journal of Hepatology|February 23, 2020
Genotype correlates with the natural history of severe bile salt export pump deficiencyDaan B E van Wessel, Richard J Thompson, Emmanuel Gonzales, et al.World Journal of Pediatrics : WJP|November 21, 2022
Diagnosis, treatment, and prevention of monkeypox in children: an experts' consensus statementRong-Meng Jiang, Yue-Jie Zheng, Lei Zhou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.JHEP Reports : Innovation in Hepatology|January 23, 2023
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiencyAntonia Felzen, Daan B E van Wessel, Emmanuel Gonzales, et al.Hepatology (Baltimore, Md.)|March 5, 2021
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 DeficiencyDaan B E van Wessel, Richard J Thompson, Emmanuel Gonzales, et al.Liver International : Official Journal of the International Association for the Study of the Liver|July 31, 2025
Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification GuidelinesShannon M Vandriel, Li-Ting Li, Huiyu She, et al.Pageof 13