Publications

Maier JI, Rogg M, Helmstädter M, Sammarco A, Walz G, Werner M, Schell C. A Novel Model for Nephrotic Syndrome Reveals Associated Dysbiosis of the Gut Microbiome and Extramedullary Hematopoiesis. Cells (2021). Schüle I, Berger U, Matysiak U, Ruzaike G, Stiller B, …, Lausch E, Grünert SC, Schmidts M. A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome. Genes (2021). Stippel M, Riedhammer KM, Lange-Sperandio B, Geßner M, Braunisch MC, …, Schmidts M; …, Renders L, Heemann U, Hoefele J. Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing. Front Genet (2021). Grünert SC, Matysiak U, Hodde F, Ruzaike G, Lausch E, Schumann A, van der Werf-Grohmann N, Spiekerkoetter U, Schmidts M. Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment. Diagnostics (Basel) (2021). Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, …, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain (2021). Schoels M, Zhuang M, Fahrner A, Kuechlin S, Sagar S, Franz H, Schmitt A, Walz G, Yakulov TA. Single-cell mRNA profiling reveals changes in solute carrier expression and suggests a metabolic switch during zebrafish pronephros development. Am J Physiol Renal Physiol (2021). Schrezenmeier E, Kremerskothen E, Halleck F, Staeck O, Liefeldt L, …, Wagner T, Budde K, Bergmann C. The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Genet Med (2021). Gimpel C, Bergmann C, Mekahli D. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol (2021). Cheng Y, Schlosser P, Hertel J, Sekula P, Oefner PJ, …, Schmidts M; …, Thiele I, Li Y, Köttgen A. Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism. Nat Commun (2021). Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021. Am J Kidney Dis (2021). Pokidysheva EN, Seeger H, Pedchenko V, Chetyrkin S, Bergmann C, …, Boudko SP, Kistler AD, Hudson BG. Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases. J Biol Chem (2021).