Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

Por Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E., Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A., Kari, Jameela A., Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2014

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Por Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, Gee, Heon Yung, McCarthy, Hugh J., Lovric, Svjetlana, Sadowski, Carolin E., Pabst, Werner, Vega-Warner, Virginia, Fang, Humphrey, Koziell, Ania, Simpson, Michael A., Dursun, Ismail, Serdaroglu, Erkin, Levy, Shawn, Saleem, Moin A., Hildebrandt, Friedhelm, Majumdar, Arindam
Publicado no Am J Hum Genet (2015)

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Por Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm
Publicado em 2014

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

Por Gee, Heon Yung, Zhang, Fujian, Ashraf, Shazia, Kohl, Stefan, Sadowski, Carolin E., Vega-Warner, Virginia, Zhou, Weibin, Lovric, Svjetlana, Fang, Humphrey, Nettleton, Margaret, Zhu, Jun-yi, Hoefele, Julia, Weber, Lutz T., Podracka, Ludmila, Boor, Andrej, Fehrenbach, Henry, Innis, Jeffrey W., Washburn, Joseph, Levy, Shawn, Lifton, Richard P., Otto, Edgar A., Han, Zhe, Hildebrandt, Friedhelm
Publicado no J Clin Invest (2015)

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Por Sadowski, Carolin E., Lovric, Svjetlana, Ashraf, Shazia, Pabst, Werner L., Gee, Heon Yung, Kohl, Stefan, Engelmann, Susanne, Vega-Warner, Virginia, Fang, Humphrey, Halbritter, Jan, Somers, Michael J., Tan, Weizhen, Shril, Shirlee, Fessi, Inès, Lifton, Richard P., Bockenhauer, Detlef, El-Desoky, Sherif, Kari, Jameela A., Zenker, Martin, Kemper, Markus J., Mueller, Dominik, Fathy, Hanan M., Soliman, Neveen A., Hildebrandt, Friedhelm
Publicado no J Am Soc Nephrol (2015)

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Por Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W., Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B., Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A., Natarajan, Sivakumar, Wiggins, Roger C., Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S., Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A., Fathy, Hanan M., Goebel, Heike, Hoefele, Julia, Weber, Lutz T., Innis, Jeffrey W., Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2013

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Por Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Publicado em 2013

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ(10) biosynthesis disruption

Por Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X., Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C., Avila-Casado, Carmen, Paterson, Andrew D., Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J., Zhou, Weibin, Airik, Rannar, Otto, Edgar A., Barua, Moumita, Al-Hamed, Mohamed H., Kari, Jameela A., Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A., Böckenhauer, Detlef, Kleta, Robert, El Desoky, Sherif, Hacihamdioglu, Duygu O., Gok, Faysal, Washburn, Joseph, Wiggins, Roger C., Choi, Murim, Lifton, Richard P., Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S., Pollak, Martin, Clarke, Catherine F., Pei, York, Antignac, Corinne, Hildebrandt, Friedhelm
Publicado em 2013

FAT1 mutations cause a glomerulotubular nephropathy

Por Gee, Heon Yung, Sadowski, Carolin E., Aggarwal, Pardeep K., Porath, Jonathan D., Yakulov, Toma A., Schueler, Markus, Lovric, Svjetlana, Ashraf, Shazia, Braun, Daniela A., Halbritter, Jan, Fang, Humphrey, Airik, Rannar, Vega-Warner, Virginia, Cho, Kyeong Jee, Chan, Timothy A., Morris, Luc G. T., ffrench-Constant, Charles, Allen, Nicholas, McNeill, Helen, Büscher, Rainer, Kyrieleis, Henriette, Wallot, Michael, Gaspert, Ariana, Kistler, Thomas, Milford, David V., Saleem, Moin A., Keng, Wee Teik, Alexander, Stephen I., Valentini, Rudolph P., Licht, Christoph, Teh, Jun C., Bogdanovic, Radovan, Koziell, Ania, Bierzynska, Agnieszka, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Holzman, Lawrence B., Sibinga, Nicholas E. S., Walz, Gerd, Tufro, Alda, Hildebrandt, Friedhelm
Publicado no Nat Commun (2016)