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Hepatology (Baltimore, Md.)|July 9, 2004
Characterization of mutations in ATP8B1 associated with hereditary cholestasisLeo W J Klomp, Julie C Vargas, Saskia W C van Mil, et al.Gastroenterology|April 9, 2008
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 familiesSandra S Strautnieks, Jane A Byrne, Ludmila Pawlikowska, et al.Journal of Hepatology|May 8, 2010
Differences in presentation and progression between severe FIC1 and BSEP deficienciesLudmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, 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.JHEP Reports : Innovation in Hepatology|April 25, 2025
Recurrence of autoimmune hepatitis cholestatic variant syndromes after liver transplantation affects graft and patient survivalVincenzo Ronca, Alessandro Parente, Ellina Lytvyak, et al.Journal of Hepatology|February 10, 2022
Risk factors and outcomes associated with recurrent autoimmune hepatitis following liver transplantationAldo J Montano-Loza, Vincenzo Ronca, Maryam Ebadi, 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.Liver International : Official Journal of the International Association for the Study of the Liver|November 18, 2025
Elevated Serum Bile Acids Predict Poor Liver Outcomes in Children With Alagille Syndrome: Results From the GALA Study GroupCarla Fiorella Murillo Perez, Shannon M Vandriel, Emmanuel M Gonzales, et al.Pageof 11