Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy

Autor Kitzler, Thomas M., Gupta, Indra R., Osterman, Bradley, Poulin, Chantal, Trakadis, Yannis, Waters, Paula J., Buhas, Daniela C.
Vydáno v JIMD Rep (2018)

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

Autor Moskowitz, Jonathan L., Piret, Sian E., Lhotta, Karl, Kitzler, Thomas M., Tashman, Adam P., Velez, Erin, Thakker, Rajesh V., Kotanko, Peter
Vydáno 2013

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

Autor Waters, Paula J., Kitzler, Thomas M., Feigenbaum, Annette, Geraghty, Michael T., Al-Dirbashi, Osama, Bherer, Patrick, Auray-Blais, Christiane, Gravel, Serge, McIntosh, Nathan, Siriwardena, Komudi, Trakadis, Yannis, Brunel-Guitton, Catherine, Al-Hertani, Walla
Vydáno v JIMD Rep (2017)

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Autor Klämbt, Verena, Mao, Youying, Schneider, Ronen, Buerger, Florian, Shamseldin, Hanan, Onuchic-Whitford, Ana C., Deutsch, Konstantin, Kitzler, Thomas M., Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hugo, Hannah, Widmeier, Eugen, Tan, Weizhen, Rehm, Heidi L., Mane, Shrikant, Lifton, Richard P., Alkuraya, Fowzan S., Shril, Shirlee, Hildebrandt, Friedhelm
Vydáno v Kidney Int Rep (2020)

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

Autor Klämbt, Verena, Werth, Max, Onuchic-Whitford, Ana C, Getwan, Maike, Kitzler, Thomas M, Buerger, Florian, Mao, Youying, Deutsch, Konstantin, Mann, Nina, Majmundar, Amar J, Kaminski, Michael M, Shen, Tian, Schmidt-Ott, Kai M, Shalaby, Mohamed, El Desoky, Sherif, Kari, Jameela A, Shril, Shirlee, Lienkamp, Soeren S, Barasch, Jonathan, Hildebrandt, Friedhelm
Vydáno v Nephrol Dial Transplant (2020)

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

Autor Kitzler, Thomas M., Schneider, Ronen, Kohl, Stefan, Kolvenbach, Caroline M., Connaughton, Dervla M., Dai, Rufeng, Mann, Nina, Nakayama, Makiko, Majmundar, Amar J., Wu, Chen-Han W., Kari, Jameela A., Desoky, Sherif M. El, Senguttuvan, Prabha, Bogdanovic, Radovan, Stajic, Natasa, Valivullah, Zaheer, Lek, Monkol, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Vydáno v Hum Genet (2019)

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Autor Mao, Youying, Schneider, Ronen, van der Ven, Peter F.M., Assent, Marvin, Lohanadan, Keerthika, Klämbt, Verena, Buerger, Florian, Kitzler, Thomas M., Deutsch, Konstantin, Nakayama, Makiko, Majmundar, Amar J., Mann, Nina, Hermle, Tobias, Onuchic-Whitford, Ana C., Zhou, Wei, Margam, Nandini Nagarajan, Duncan, Roy, Marquez, Jonathan, Khokha, Mustafa, Fathy, Hanan M., Kari, Jameela A., El Desoky, Sherif, Eid, Loai A., Awad, Hazem Subhi, Al-Saffar, Muna, Mane, Shrikant, Lifton, Richard P., Fürst, Dieter O., Shril, Shirlee, Hildebrandt, Friedhelm
Vydáno v Kidney Int Rep (2020)

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

Autor Schneider, Ronen, Deutsch, Konstantin, Hoeprich, Gregory J., Marquez, Jonathan, Hermle, Tobias, Braun, Daniela A., Seltzsam, Steve, Kitzler, Thomas M., Mao, Youying, Buerger, Florian, Majmundar, Amar J., Onuchic-Whitford, Ana C., Kolvenbach, Caroline M., Schierbaum, Luca, Schneider, Sophia, Halawi, Abdul A., Nakayama, Makiko, Mann, Nina, Connaughton, Dervla M., Klämbt, Verena, Wagner, Matias, Riedhammer, Korbinian M., Renders, Lutz, Katsura, Yoshichika, Thumkeo, Dean, Soliman, Neveen A., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Khokha, Mustafa K., Hoefele, Julia, Goode, Bruce L., Hildebrandt, Friedhelm
Vydáno v Am J Hum Genet (2020)

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

Autor Mann, Nina, Braun, Daniela A., Amann, Kassaundra, Tan, Weizhen, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Schneider, Ronen, Kitzler, Thomas M., van der Ven, Amelie T., Chen, Jing, Ityel, Hadas, Vivante, Asaf, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Lovric, Svjetlana, Ashraf, Shazia, Jobst-Schwan, Tilman, Widmeier, Eugen, Hugo, Hannah, Mane, Shrikant M., Spaneas, Leslie, Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Stein, Deborah R., Baum, Michelle A., Daouk, Ghaleb H., Lifton, Richard P., Manzi, Shannon, Vakili, Khashayar, Kim, Heung Bae, Rodig, Nancy M., Hildebrandt, Friedhelm
Vydáno v J Am Soc Nephrol (2019)

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Autor Mann, Nina, Mzoughi, Slim, Schneider, Ronen, Kühl, Susanne J., Schanze, Denny, Klämbt, Verena, Lovric, Svjetlana, Mao, Youying, Shi, Shasha, Tan, Weizhen, Kühl, Michael, Onuchic-Whitford, Ana C., Treimer, Ernestine, Kitzler, Thomas M., Kause, Franziska, Schumann, Sven, Nakayama, Makiko, Buerger, Florian, Shril, Shirlee, van der Ven, Amelie T., Majmundar, Amar J., Holton, Kristina Marie, Kolb, Amy, Braun, Daniela A., Rao, Jia, Jobst-Schwan, Tilman, Mildenberger, Eva, Lennert, Thomas, Kuechler, Alma, Wieczorek, Dagmar, Gross, Oliver, Ermisch-Omran, Beate, Werberger, Anja, Skalej, Martin, Janecke, Andreas R., Soliman, Neveen A., Mane, Shrikant M., Lifton, Richard P., Kadlec, Jan, Guccione, Ernesto, Schmeisser, Michael J., Zenker, Martin, Hildebrandt, Friedhelm
Vydáno v J Am Soc Nephrol (2021)

Monogenic causes of chronic kidney disease in adults

Autor Connaughton, Dervla M., Kennedy, Claire, Shril, Shirlee, Mann, Nina, Murray, Susan L., Williams, Patrick A., Conlon, Eoin, Nakayama, Makiko, van der Ven, Amelie T., Ityel, Hadas, Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Vivante, Asaf, Braun, Daniela A., Schneider, Ronen, Kitzler, Thomas M., Moloney, Brona, Moran, Conor P., Smyth, John S., Kennedy, Alan, Benson, Katherine, Stapleton, Caragh, Denton, Mark, Magee, Colm, O’Seaghdha, Conall M., Plant, William D., Griffin, Matthew D., Awan, Atif, Sweeney, Clodagh, Mane, Shrikant M., Lifton, Richard P., Griffin, Brenda, Leavey, Sean, Casserly, Liam, de Freitas, Declan G., Holian, John, Dorman, Anthony, Doyle, Brendan, Lavin, Peter J., Little, Mark A., Conlon, Peter J., Hildebrandt, Friedhelm
Vydáno v Kidney Int (2019)

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

Autor Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan, Asif, Maria, Hussain, Muhammad Sajid, Daga, Ankana, Widmeier, Eugen, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung, Warejko, Jillian K., Hermle, Tobias, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmüller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroğlu, Erkin, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nürnberg, Peter, Khokha, Mustafa K., Hildebrandt, Friedhelm
Vydáno v J Clin Invest (2018)

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

Autor van der Ven, Amelie T., Connaughton, Dervla M., Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-yang, Schulz, Julian, Braun, Daniela A., Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K., Daga, Ankana, Majmundar, Amar J., Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A., Hugo, Hannah, Kitzler, Thomas M., Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R., Baum, Michelle A., Somers, Michael J.G., Rodig, Nancy M., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S., Eid, Loai A., Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Wilson, Michael W., Mane, Shrikant M., Lifton, Richard P., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Reutter, Heiko M., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Vydáno v J Am Soc Nephrol (2018)

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Autor Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O’Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D’Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone
Vydáno v Am J Hum Genet (2021)

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Autor Connaughton, Dervla M., Dai, Rufeng, Owen, Danielle J., Marquez, Jonathan, Mann, Nina, Graham-Paquin, Adda L., Nakayama, Makiko, Coyaud, Etienne, Laurent, Estelle M.N., St-Germain, Jonathan R., Blok, Lot Snijders, Vino, Arianna, Klämbt, Verena, Deutsch, Konstantin, Wu, Chen-Han Wilfred, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Schneider, Ronen, Kitzler, Thomas M., Majmundar, Amar J., Buerger, Florian, Onuchic-Whitford, Ana C., Youying, Mao, Kolb, Amy, Salmanullah, Daanya, Chen, Evan, van der Ven, Amelie T., Rao, Jia, Ityel, Hadas, Seltzsam, Steve, Rieke, Johanna M., Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Dworschak, Gabriel C., Hermle, Tobias, Alders, Mariëlle, Bartolomaeus, Tobias, Bauer, Stuart B., Baum, Michelle A., Brilstra, Eva H., Challman, Thomas D., Zyskind, Jacob, Costin, Carrie E., Dipple, Katrina M., Duijkers, Floor A., Ferguson, Marcia, Fitzpatrick, David R., Fick, Roger, Glass, Ian A., Hulick, Peter J., Kline, Antonie D., Krey, Ilona, Kumar, Selvin, Lu, Weining, Marco, Elysa J., Wentzensen, Ingrid M., Mefford, Heather C., Platzer, Konrad, Povolotskaya, Inna S., Savatt, Juliann M., Shcherbakova, Natalia V., Senguttuvan, Prabha, Squire, Audrey E., Stein, Deborah R., Thiffault, Isabelle, Voinova, Victoria Y., Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Daga, Ankana, Rodig, Nancy M., Terhal, Paulien A., van Binsbergen, Ellen, Eid, Loai A., Tasic, Velibor, Rasouly, Hila Milo, Lim, Tze Y., Ahram, Dina F., Gharavi, Ali G., Reutter, Heiko M., Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Lifton, Richard P., Xu, Hong, Mane, Shrikant M., Sanna-Cherchi, Simone, Sharrocks, Andrew D., Raught, Brian, Fisher, Simon E., Bouchard, Maxime, Khokha, Mustafa K., Shril, Shirlee, Hildebrandt, Friedhelm
Vydáno v Am J Hum Genet (2020)