Biography and Research Interest

Publications

Non-Zebrafish Publications

Jobst-Schwan, T., Klämbt, V., Tarsio, M., Heneghan, J. F., Majmundar, A. J., Shril, S., Buerger, F., Ottlewski, I., Shmukler, B. E., Topaloglu, R., Hashmi, S., Hafeez, F., Emma, F., Greco, M., Laube, G. F., Fathy, H. M., Pohl, M., Gellermann, J., Milosevic, D., Baum, M. A., Mane, S., Lifton, R. P., Kane, P. M., Alper, S. L. and Hildebrandt, F. (2020) Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int 97:567-579

Jobst-Schwan, T., Pannes, A., Schlingmann, K. P., Eckardt, K. U., Beck, B. B. and Wiesener, M. S. (2015) Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. Kidney Blood Press Res 40:443-51

Jobst-Schwan, T., Knaup, K. X., Nielsen, R., Hackenbeck, T., Buettner-Herold, M., Lechler, P., Kroening, S., Goppelt-Struebe, M., Schloetzer-Schrehardt, U., Furnrohr, B. G., Voll, R. E., Amann, K., Eckardt, K. U., Christensen, E. I. and Wiesener, M. S. (2013) Renal uptake of the antiapoptotic protein survivin is mediated by megalin at the apical membrane of the proximal tubule. Am J Physiol Renal Physiol 305: F734-44

Majmundar, A. J., Widmeier, E., Heneghan, J. F., Daga, A., Wu, C.-H. W., Buerger, F., Hugo, H., Ullah, I., Amar, A., Ottlewski, I., Braun, D. A., Jobst-Schwan, T., Lawson, J. A., Zahoor, M. Y., Rodig, N. M., Tasic, V., Nelson, C. P., Khaliq, S., Schönauer, R., Halbritter, J., Sayer, J. A., Fathy, H. M., Baum, M. A., Shril, S., Mane, S., Alper, S. L. and Hildebrandt, F. (2023) OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics in Medicine 25(3): 100351

Wopperer, F. J., Knaup, K. X., Stanzick, K. J., Schneider, K., Jobst-Schwan, T., Ekici, A. B., Uebe, S., Wenzel, A., Schliep, S., Schürfeld, C., Seitz, R., Bernhardt, W., Gödel, M., Wiesener, A., Popp, B., Stark, K. J., Gröne, H. J., Friedrich, B., Weiß, M., Basic-Jukic, N., Schiffer, M., Schröppel, B., Huettel, B., Beck, B. B., Sayer, J. A., Ziegler, C., Büttner-Herold, M., Amann, K., Heid, I. M., Reis, A., Pasutto, F. and Wiesener, M. S. (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney Int 102(2): 405-420

Mann, N., Mzoughi, S., Schneider, R., Kühl, S. J., Schanze, D., Klämbt, V., Lovric, S., Mao, Y., Shi, S., Tan, W., Kühl, M., Onuchic-Whitford, A. C., Treimer, E., Kitzler, T. M., Kause, F., Schumann, S., Nakayama, M., Buerger, F., Shril, S., van der Ven, A. T., Majmundar, A. J., Holton, K. M., Kolb, A., Braun, D. A., Rao, J., Jobst-Schwan, T., Mildenberger, E., Lennert, T., Kuechler, A., Wieczorek, D., Gross, O., Ermisch-Omran, B., Werberger, A., Skalej, M., Janecke, A. R., Soliman, N. A., Mane, S. M., Lifton, R. P., Kadlec, J., Guccione, E., Schmeisser, M. J., Zenker, M. and Hildebrandt, F. (2021). Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol 32(3): 580-596

Muller-Deile, J., Jobst-Schwan, T. and Schiffer, M. (2019) Moving beyond GWAS and eQTL Analysis to Validated Hits in Chronic Kidney Disease. Cell Metab 29, 9-10

Schapiro, D., Daga, A., Lawson, J. A., Majmundar, A. J., Lovric, S., Tan, W., Warejko, J. K., Fessi, I., Rao, J., Airik, M., Gee, H. Y., Schneider, R., Widmeier, E., Hermle, T., Ashraf, S., Jobst-Schwan, T., van der Ven, A. T., Nakayama, M., Shril, S., Braun, D. A. and Hildebrandt, F. (2019) Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant 34: 474-485

Mann, N., Braun, D. A., Amann, K., Tan, W., Shril, S., Connaughton, D. M., Nakayama, M., Schneider, R., Kitzler, T. M., van der Ven, A. T., Chen, J., Ityel, H., Vivante, A., Majmundar, A. J., Daga, A., Warejko, J. K., Lovric, S., Ashraf, S., Jobst-Schwan, T., Widmeier, E., Hugo, H., Mane, S. M., Spaneas, L., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Stein, D. R., Baum, M. A., Daouk, G. H., Lifton, R. P., Manzi, S., Vakili, K., Kim, H. B., Rodig, N. M. and Hildebrandt, F. (2019) Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol 30: 201-215

Amar, A., Majmundar, A. J., Ullah, I., Afzal, A., Braun, D. A., Shril, S., Daga, A., Jobst-Schwan, T., Ahmad, M., Sayer, J. A., Gee, H. Y., Halbritter, J., Knopfel, T., Hernando, N., Werner, A., Wagner, C., Khaliq, S. and Hildebrandt, F. (2019) Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet 138: 211-219

Braun, D. A., Warejko, J. K., Ashraf, S., Tan, W., Daga, A., Schneider, R., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Nakayama, M., Schapiro, D., Rao, J., Schmidt, J. M., Hoogstraten, C. A., Hugo, H., Bakkaloglu, S. A., Kari, J. A., El Desoky, S., Daouk, G., Mane, S., Lifton, R. P., Shril, S. and Hildebrandt, F. (2019) Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant 34: 474-485

Ashraf, S., Kudo, H., Rao, J., Kikuchi, A., Widmeier, E., Lawson, J. A., Tan, W., Hermle, T., Warejko, J. K., Shril, S., Airik, M., Jobst-Schwan, T., Lovric, S., Braun, D. A., Gee, H. Y., Schapiro, D., Majmundar, A. J., Sadowski, C. E., Pabst, W. L., Daga, A., van der Ven, A. T., Schmidt, J. M., Low, B. C., Gupta, A. B., Tripathi, B. K., Wong, J., Campbell, K., Metcalfe, K., Schanze, D., Niihori, T., Kaito, H., Nozu, K., Tsukaguchi, H., Tanaka, R., Hamahira, K., Kobayashi, Y., Takizawa, T., Funayama, R., Nakayama, K., Aoki, Y., Kumagai, N., Iijima, K., Fehrenbach, H., Kari, J. A., El Desoky, S., Jalalah, S., Bogdanovic, R., Stajic, N., Zappel, H., Rakhmetova, A., Wassmer, S. R., Jungraithmayr, T., Strehlau, J., Kumar, A. S., Bagga, A., Soliman, N. A., Mane, S. M., Kaufman, L., Lowy, D. R., Jairajpuri, M. A., Lifton, R. P., Pei, Y., Zenker, M., Kure, S. and Hildebrandt, F. (2018) Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat commun 9: 1960

Braun, D. A., Shril, S., Sinha, A., Schneider, R., Tan, W., Ashraf, S., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Daga, A., Warejko, J. K., Nakayama, M., Schapiro, D., Chen, J., Airik, M., Rao, J., Schmidt, J. M., Hoogstraten, C. A., Hugo, H., Meena, J., Lek, M., Laricchia, K. M., Bagga, A. and Hildebrandt, F. (2018) Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A 176: 2460-2465

Hermle, T., Schneider, R., Schapiro, D., Braun, D. A., van der Ven, A. T., Warejko, J. K., Daga, A., Widmeier, E., Nakayama, M., Jobst-Schwan, T., Majmundar, A. J., Ashraf, S., Rao, J., Finn, L. S., Tasic, V., Hernandez, J. D., Bagga, A., Jalalah, S. M., El Desoky, S., Kari, J. A., Laricchia, K. M., Lek, M., Rehm, H. L., MacArthur, D. G., Mane, S., Lifton, R. P., Shril, S. and Hildebrandt, F. (2018) GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29: 2123-2138

van der Ven, A. T., Connaughton, D. M., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D. Y., Schulz, J., Braun, D. A., Schmidt, J. M., Schapiro, D., Schneider, R., Warejko, J. K., Daga, A., Majmundar, A. J., Tan, W., Jobst-Schwan, T., Hermle, T., Widmeier, E., Ashraf, S., Amar, A., Hoogstraaten, C. A., Hugo, H., Kitzler, T. M., Kause, F., Kolvenbach, C. M., Dai, R., Spaneas, L., Amann, K., Stein, D. R., Baum, M. A., Somers, M. J. G., Rodig, N. M., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Bogdanovic, R., Stajic, N., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H. M., Milosevic, D., Al-Saffar, M., Awad, H. S., Eid, L. A., Selvin, A., Senguttuvan, P., Sanna-Cherchi, S., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Wilson, M. W., Mane, S. M., Lifton, R. P., Lee, R. S., Bauer, S. B., Lu, W., Reutter, H. M., Tasic, V., Shril, S. and Hildebrandt, F. (2018) Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 29: 2348-2361

Daga, A., Majmundar, A. J., Braun, D. A., Gee, H. Y., Lawson, J. A., Shril, S., Jobst-Schwan, T., Vivante, A., Schapiro, D., Tan, W., Warejko, J. K., Widmeier, E., Nelson, C. P., Fathy, H. M., Gucev, Z., Soliman, N. A., Hashmi, S., Halbritter, J., Halty, M., Kari, J. A., El-Desoky, S., Ferguson, M. A., Somers, M. J. G., Traum, A. Z., Stein, D. R., Daouk, G. H., Rodig, N. M., Katz, A., Hanna, C., Schwaderer, A. L., Sayer, J. A., Wassner, A. J., Mane, S., Lifton, R. P., Milosevic, D., Tasic, V., Baum, M. A. and Hildebrandt, F. (2018) Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int 93:204-213

Warejko, J. K., Tan, W., Daga, A., Schapiro, D., Lawson, J. A., Shril, S., Lovric, S., Ashraf, S., Rao, J., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Schneider, R., Gee, H. Y., Schmidt, J. M., Vivante, A., van der Ven, A. T., Ityel, H., Chen, J., Sadowski, C. E., Kohl, S., Pabst, W. L., Nakayama, M., Somers, M. J. G., Rodig, N. M., Daouk, G., Baum, M., Stein, D. R., Ferguson, M. A., Traum, A. Z., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H., Zenker, M., Bakkaloglu, S. A., Muller, D., Noyan, A., Ozaltin, F., Cadnapaphornchai, M. A., Hashmi, S., Hopcian, J., Kopp, J. B., Benador, N., Bockenhauer, D., Bogdanovic, R., Stajic, N., Chernin, G., Ettenger, R., Fehrenbach, H., Kemper, M., Munarriz, R. L., Podracka, L., Buscher, R., Serdaroglu, E., Tasic, V., Mane, S., Lifton, R. P., Braun, D. A. and Hildebrandt, F. (2018) Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol 13: 53-62

Rao, J., Ashraf, S., Tan, W., van der Ven, A. T., Gee, H. Y., Braun, D. A., Feher, K., George, S. P., Esmaeilniakooshkghazi, A., Choi, W. I., Jobst-Schwan, T., Schneider, R., Schmidt, J. M., Widmeier, E., Warejko, J. K., Hermle, T., Schapiro, D., Lovric, S., Shril, S., Daga, A., Nayir, A., Shenoy, M., Tse, Y., Bald, M., Helmchen, U., Mir, S., Berdeli, A., Kari, J. A., El Desoky, S., Soliman, N. A., Bagga, A., Mane, S., Jairajpuri, M. A., Lifton, R. P., Khurana, S., Martins, J. C. and Hildebrandt, F. (2017) Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. J Clin Invest 127: 4257-4269

Lovric, S., Goncalves, S., Gee, H. Y., Oskouian, B., Srinivas, H., Choi, W. I., Shril, S., Ashraf, S., Tan, W., Rao, J., Airik, M., Schapiro, D., Braun, D. A., Sadowski, C. E., Widmeier, E., Jobst-Schwan, T., Schmidt, J. M., Girik, V., Capitani, G., Suh, J. H., Lachaussee, N., Arrondel, C., Patat, J., Gribouval, O., Furlano, M., Boyer, O., Schmitt, A., Vuiblet, V., Hashmi, S., Wilcken, R., Bernier, F. P., Innes, A. M., Parboosingh, J. S., Lamont, R. E., Midgley, J. P., Wright, N., Majewski, J., Zenker, M., Schaefer, F., Kuss, N., Greil, J., Giese, T., Schwarz, K., Catheline, V., Schanze, D., Franke, I., Sznajer, Y., Truant, A. S., Adams, B., Desir, J., Biemann, R., Pei, Y., Ars, E., Lloberas, N., Madrid, A., Dharnidharka, V. R., Connolly, A. M., Willing, M. C., Cooper, M. A., Lifton, R. P., Simons, M., Riezman, H., Antignac, C., Saba, J. D. and Hildebrandt, F. (2017) Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest 127:912-928

Knaup, K. X., Monti, J., Hackenbeck, T., Jobst-Schwan, T., Klanke, B., Schietke, R. E., Wacker, I., Behrens, J., Amann, K., Eckardt, K. U., Warnecke, C. and Wiesener, M. S. (2014) Hypoxia regulates the sperm associated antigen 4 (SPAG4) via HIF, which is expressed in renal clear cell carcinoma and promotes migration and invasion in vitro. Mol Carcinog 53:970-8