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Journal of Medical Genetics|November 15, 2022
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systemsCaroline M Kolvenbach, Tim Felger, Luca Schierbaum, et al.European Journal of Pediatrics|March 17, 2016
More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestationSoyhan Bagci, Erwin Brosens, Dick Tibboel, et al.Human Genetics|June 1, 2015
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tractDaw-Yang Hwang, Stefan Kohl, Xueping Fan, et al.Clinical Dysmorphology|August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisEnrika Bartels, Anna C Schulz, Nicole W Mora, et al.Frontiers in Pediatrics|July 14, 2020
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL AnomaliesRomy van de Putte, Gabriel C Dworschak, Erwin Brosens, et al.Cell Metabolism|August 11, 2016
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and RodentsSumeet A Khetarpal, Katrine T Schjoldager, Christina Christoffersen, et al.Cell|May 14, 2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysLiyun Sang, Julie J Miller, Kevin C Corbit, et al.Kidney International|October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.American Journal of Human Genetics|August 4, 2015
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentAsaf Vivante, Marc-Jens Kleppa, Julian Schulz, et al.Journal of Medical Genetics|December 23, 2024
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.Pageof 3