Publications

Antony D, Gulec Yilmaz E, Gezdirici A, Slagter L, Bakey Z, …, Walentek P, Arnold SJ, Backofen R, Schmidts M. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Front Genet (2022). Devane J, Ott E, Olinger EG, Epting D, Decker E, …, Börries M, Metzger P, Schell C, …, Schlevogt B, Sayer JA, Bergmann C. Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. Am J Hum Genet (2022). Rogg M, Maier JI, Ehle M, Sammarco A, Schilling O, Werner M, Schell C. NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes. Cells (2022). Cheng Y, Li Y, Scherer N, Grundner-Culemann F, Lehtimäki T, …, Sekula P, Schultheiss UT; GCKD investigators. Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study. PLoS Genet (2022). Tanriver U, Emmerich F, Hummel JF, Jänigen B, Panning M, Arnold F, Tanriver Y. IFNL4 rs368234815 polymorphism does not predict risk of BK virus associated nephropathy after living-donor kidney transplant: A case-control study. Clin Transplant (2022). Rogg M, Maier JI, Van Wymersch C, Helmstädter M, Sammarco A, …, Walz G, …, Benzing T, Huber TB, Schell C. α-Parvin Defines a Specific Integrin Adhesome to Maintain the Glomerular Filtration Barrier. J Am Soc Nephrol (2022). Wanner N, Andrieux G, Badia-I-Mompel P, Edler C, Pfefferle S, …, Börries M, …, Scaturro P, Puelles VG, Huber TB.  Molecular consequences of SARS-CoV-2 liver tropism. Nat Metab (2022). Ziegler WH, Lüdiger S, Hassan F, Georgiadis ME, Swolana K, …, Bergmann C, Soetje B, Haffner D. Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases. Orphanet J Rare Dis (2022). Rad A, Najafi M, Suri F, Abedini S, Loum S, …, Hashemi N, Vona B, Schmidts M. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. Orphanet J Rare Dis (2022). Joseph CB, Mariniello M, Yoshifuji A, Schiano G, Lake J, …, Wuttke M, …, Köttgen A, Hayward C, Devuyst O. Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. JASN (2022). Fahrner M, Föll MC, Grüning BA, Bernt M, Röst H, Schilling O. Democratizing data-independent acquisition proteomics analysis on public cloud infrastructures via the Galaxy framework. Gigascience (2022). Scholl UI. Genetics of Primary Aldosteronism. Hypertension (2022). Epting D, Decker E, Ott E, Eisenberger T, Bader I, Bachmann N, Bergmann C. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Hum Mol Genet (2022). Gerstner L, Chen M, Kampf LL, Milosavljevic J, Lang K, …, Helmstädter M, Walz G, Hermle T. Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila. Kidney Int (2022). Choi M, Rübsam A, Schulz M, Decker E, Friedrich A, Schrezenmeier E, Halleck F, Eckardt KU, Bergmann C. Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing. Kidney Int Rep (2022). Etges A, Hellmig N, Walenda G, Haddad BG, Machtens JP, Morosan T, Rump LC, Scholl UI. A Novel Homozygous KLHL3 Mutation as a Cause of Autosomal Recessive Pseudohypoaldosteronism Type II Diagnosed Late in Life. Nephron (2022).