Dr. med. Tilman Jobst-Schwan

Department of Medicine 4 – Nephrology and Hypertension

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis (2019) Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, et al. Journal article Moving beyond GWAS and eQTL Analysis to Validated Hits in Chronic Kidney Disease (2019) Müller-Deile J, Jobst-Schwan T, Schiffer M Journal article Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment (2018) Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, et al. Journal article Mutations in WDR4 as a new cause of Galloway–Mowat syndrome (2018) Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, et al. Journal article Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome (2018) Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, et al. Journal article Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract (2018) Van Der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, et al. Journal article GAPVD1 and ANKFY1 mutations implicate RAB5 regulation in nephrotic syndrome (2018) Hermle T, Schneider R, Schapiro D, Braun DA, Van Der Ven AT, Warejko JK, Daga A, et al. Journal article Whole exome sequencing of patients with steroid-resistant nephrotic syndrome (2018) Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, et al. Journal article Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model (2018) Jobst-Schwan T, Schmidt JM, Schneider R, Hoogstraten CA, Ullmann JFP, Schapiro D, Majmundar AJ, et al. Journal article Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis (2018) Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, et al. Journal article