Publications

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Author Title [ Year(Desc)]
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2018
Hermle, T. et al. and Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138 (2018).
van der Ven, A. T. et al. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One 13, e0191224 (2018).
Braun, D. A. et al. Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176, 2460-2465 (2018).
Warejko, J. K. et al. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13, 53-62 (2018).
van der Ven, A. T. et al. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29, 2348-2361 (2018).
2019
Kitzler, T. M. et al. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Braun, D. A. et al. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant 34, 485-493 (2019).
Connaughton, D. M. et al. Monogenic causes of chronic kidney disease in adults. Kidney Int 95, 914-928 (2019).
Solanki, A. K. et al. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int 96, 883-889 (2019).
Mann, N. et al. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30, 201-215 (2019).
2020
Schneider, R. et al. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
Connaughton, D. M. et al. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).
Wu, C. - H. Wilfred et al. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med 22, 1673-1681 (2020).
2021
Klämbt, V. et al. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep 6, 460-471 (2021).