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Orphanet Journal of Rare Diseases|December 15, 2017
Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritanceGabriel C Dworschak, Nadine Zwink, Eberhard Schmiedeke, et al.
Journal of Clinical Medicine|December 24, 2021
Adjuvant Therapy with Budesonide Post-Kasai Reduces the Need for Liver Transplantation in Biliary AtresiaJoachim F Kuebler, Omid Madadi-Sanjani, Eva D Pfister, et al.
Gastroenterology|September 26, 2015
Interleukin 17, Produced by γδ T Cells, Contributes to Hepatic Inflammation in a Mouse Model of Biliary Atresia and Is Increased in Livers of PatientsChristian Klemann, Arne Schröder, Anika Dreier, et al.
Pediatric Surgery International|May 15, 2012
Inheritance of the VATER/VACTERL associationEnrika Bartels, Ekkehart Jenetzky, Benjamin D Solomon, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|August 19, 2014
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomaliesClaudia Zeidler, Joachim Woelfle, Markus Draaken, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformationsGabriel C Dworschak, Markus Draaken, Carlo Marcelis, et al.
Birth Defects Research|June 13, 2017
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variationsRong Zhang, Florian Marsch, Franziska Kause, et al.
European Journal of Human Genetics : EJHG|November 2, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformationsJulia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, et al.
Plos One|June 6, 2020
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresiaRong Zhang, Jan Gehlen, Amit Kawalia, et al.
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