Survey towards develop platform for budding entrepreneurs for overall support von Bhosale, Avadhut, Kakade, Sagar, Mane, Amar, Walke, Shivraj, Shukla, Prof.Twinkal

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

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

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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression von Yang, Chaozhe, Harafuji, Naoe, O’Connor, Amber K., Kesterson, Robert A., Watts, Jacob A., Majmundar, Amar J., Braun, Daniela A., Lek, Monkol, Laricchia, Kristen M., Fathy, Hanan M., Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Guay-Woodford, Lisa M.

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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome von Solanki, Ashish K., Widmeier, Eugen, Arif, Ehtesham, Sharma, Shailza, Daga, Ankana, Srivastava, Pankaj, Kwon, Sang-Ho, Hugo, Hannah, Nakayama, Makiko, Mann, Nina, Majmundar, Amar J., Tan, Wei, Gee, Heon Yung, Sadowski, Caroline E., Rinat, Choni, Becker-Cohen, Rachel, Bergmann, Carsten, Rosen, Seymour, Somers, Michael, Shril, Shirlee, Huber, Tobias B., Mane, Shrikant, Hildebrandt, Friedhelm, Nihalani, Deepak

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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis von Daga, Ankana, Majmundar, Amar J., Braun, Daniela A., Gee, Heon Yung, Lawson, Jennifer A., Shril, Shirlee, Jobst-Schwan, Tilman, Vivante, Asaf, Schapiro, David, Tan, Weizhen, Warejko, Jillian K., Widmeier, Eugen, Nelson, Caleb P., Fathy, Hanan M., Gucev, Zoran, Soliman, Neveen A., Hashmi, Seema, Halbritter, Jan, Halty, Margarita, Kari, Jameela A., El-Desoky, Sherif, Ferguson, Michael A., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daouk, Ghaleb H., Rodig, Nancy M., Katz, Avi, Hanna, Christian, Schwaderer, Andrew L., Sayer, John A., Wassner, Ari J., Mane, Shrikant, Lifton, Richard P., Milosevic, Danko, Tasic, Velibor, Baum, Michelle A., Hildebrandt, Friedhelm

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Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome von Braun, Daniela A, Warejko, Jillian K, Ashraf, Shazia, Tan, Weizhen, Daga, Ankana, Schneider, Ronen, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Nakayama, Makiko, Schapiro, David, Rao, Jia, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A, Hugo, Hannah, Bakkaloglu, Sevcan A, Kari, Jameela A, El Desoky, Sherif, Daouk, Ghaleb, Mane, Shrikant, Lifton, Richard P, Shril, Shirlee, Hildebrandt, Friedhelm

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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation von 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

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

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TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome von Kampf, Lina L, Schneider, Ronen, Gerstner, Lea, Thünauer, Roland, Chen, Mengmeng, Helmstädter, Martin, Amar, Ali, Onuchic-Whitford, Ana C, Loza Munarriz, Reyner, Berdeli, Afig, Müller, Dominik, Schrezenmeier, Eva, Budde, Klemens, Mane, Shrikant, Laricchia, Kristen M, Rehm, Heidi L, MacArthur, Daniel G, Lifton, Richard P, Walz, Gerd, Römer, Winfried, Bergmann, Carsten, Hildebrandt, Friedhelm, Hermle, Tobias

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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT von Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Mann, Nina, Connaughton, Dervla M., Wu, Chen-Han Wilfred, Schneider, Sophia, Schierbaum, Luca, Kause, Franziska, Kolvenbach, Caroline M., Nakayama, Makiko, Dai, Rufeng, Ottlewski, Isabel, Schneider, Ronen, Deutsch, Konstantin, Buerger, Florian, Klämbt, Verena, Mao, Youying, Onuchic-Whitford, Ana C., Nicolas-Frank, Camille, Yousef, Kirollos, Pantel, Dalia, Lai, Ethan W., Salmanullah, Daanya, Majmundar, Amar J., Bauer, Stuart B., Rodig, Nancy M., Somers, Michael J.G., Traum, Avram Z., Stein, Deborah R., Daga, Ankana, Baum, Michelle A., Daouk, Ghaleb H., Tasic, Velibor, Awad, Hazem S., Eid, Loai A., El Desoky, Sherif, Shalaby, Mohammed, Kari, Jameela A., Fathy, Hanan M., Soliman, Neveen A., Mane, Shrikant M., Shril, Shirlee, Ferguson, Michael A., Hildebrandt, Friedhelm

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OXGR1 Is a Candidate Disease Gene for Human Calcium Oxalate Nephrolithiasis: SA-PO566 von Majmundar, Amar J., Widmeier, Eugen, Heneghan, John F., Daga, Ankana, Hugo, Hannah, Amar, Ali, Jobst-Schwan, Tilman, Nelson, Caleb, Halbritter, Jan, Sayer, John A., Fathy, Hanan, Baum, Michelle A., Shril, Shirlee, Mane, Shrikant M., Alper, Seth L., Hildebrandt, Friedhelm

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Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis von Jobst-Schwan, Tilman, Klämbt, Verena, Tarsio, Maureen, Heneghan, John F., Majmundar, Amar J., Shril, Shirlee, Buerger, Florian, Ottlewski, Isabel, Shmukler, Boris E., Topaloglu, Rezan, Hashmi, Seema, Hafeez, Farkhanda, Emma, Francesco, Greco, Marcella, Laube, Guido F., Fathy, Hanan M., Pohl, Martin, Gellermann, Jutta, Milosevic, Danko, Baum, Michelle A., Mane, Shrikant, Lifton, Richard P., Kane, Patricia M., Alper, Seth L., Hildebrandt, Friedhelm

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A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner von Habiby, Reema, Bichet, Daniel G, Arthus, Marie-Francoise, Connaughton, Dervia, Shril, Shirlee, Mane, Shrikant, Majmundar, Amar J, Hildebrandt, Friedhelm, Robertson, Gary L

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Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis von Ullah, Ihsan, Ottlewski, Isabel, Shehzad, Wasim, Riaz, Amjad, Ijaz, Sadaqat, Tufail, Asad, Ammara, Hafiza, Mane, Shrikant, Shril, Shirlee, Hildebrandt, Friedhelm, Zahoor, Muhammad Yasir, Majmundar, Amar J

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Impact of Climate Variability on Crop Yield in Pune District: A Comprehensive Study von Chipade, Amar M., Chavan, Chetan, Nerlekar, Tanaya, Barkale, Akshay D., Mane, Chetan P.

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CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations von Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm

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Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome von Warejko, Jillian K, Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A, Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J, Schneider, Ronen, Gee, Heon Yung, Schmidt, J Magdalena, Vivante, Asaf, van der Ven, Amelie T, Ityel, Hadas, Chen, Jing, Sadowski, Carolin E, Kohl, Stefan, Pabst, Werner L, Nakayama, Makiko, Somers, Michael J G, Rodig, Nancy M, Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R, Ferguson, Michael A, Traum, Avram Z, Soliman, Neveen A, Kari, Jameela A, El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A, Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A, Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B, Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P, Braun, Daniela A, Hildebrandt, Friedhelm

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GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome von Hermle, Tobias, Schneider, Ronen, Schapiro, David, Braun, Daniela A, van der Ven, Amelie T, Warejko, Jillian K, Daga, Ankana, Widmeier, Eugen, Nakayama, Makiko, Jobst-Schwan, Tilman, Majmundar, Amar J, Ashraf, Shazia, Rao, Jia, Finn, Laura S, Tasic, Velibor, Hernandez, Joel D, Bagga, Arvind, Jalalah, Sawsan M, El Desoky, Sherif, Kari, Jameela A, Laricchia, Kristen M, Lek, Monkol, Rehm, Heidi L, MacArthur, Daniel G, Mane, Shrikant, Lifton, Richard P, Shril, Shirlee, Hildebrandt, Friedhelm

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis von Majmundar, Amar J., Widmeier, Eugen, Heneghan, John F., Daga, Ankana, Wu, Chen-Han Wilfred, Buerger, Florian, Hugo, Hannah, Ullah, Ihsan, Amar, Ali, Ottlewski, Isabel, Braun, Daniela A., Jobst-Schwan, Tilman, Lawson, Jennifer A., Zahoor, Muhammad Yasir, Rodig, Nancy M., Tasic, Velibor, Nelson, Caleb P., Khaliq, Shagufta, Schönauer, Ria, Halbritter, Jan, Sayer, John A., Fathy, Hanan M., Baum, Michelle A., Shril, Shirlee, Mane, Shrikant, Alper, Seth L., Hildebrandt, Friedhelm

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