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Journal of Pediatric Genetics|August 11, 2017
Role of the LF-SINE-Derived Distal <i>ISL1</i> Enhancer in Patients with Classic Bladder ExstrophyRong Zhang, Michael Knapp, Franziska Kause, et al.
Molecular Medicine Reports|December 20, 2017
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio‑otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?Franziska Kause, Heiko Reutter, Florian Marsch, et al.
Birth Defects Research|March 20, 2019
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrumFranziska Kause, Rong Zhang, Michael Ludwig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2020
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, et al.
American Journal of Medical Genetics. Part A|August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genesCaroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, 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.
American Journal of Human Genetics|November 12, 2019
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor MutationsNina Mann, Franziska Kause, Erik K Henze, et al.
European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, et al.
Journal of the American Society of Nephrology : JASN|February 17, 2021
Mutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat SyndromeNina Mann, Slim Mzoughi, Ronen Schneider, et al.
American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
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