Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Wu, Chen-Han Wilfred, Lim, Tze Y., Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca, Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Nakayama, Makiko, van der Ven, Amelie T., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Stajic, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Turudic, Daniel, Al Saffar, Muna, Awad, Hazem S., Eid, Loai A., Ramanathan, Aravind, Senguttuvan, Prabha, Mane, Shrikant M., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Hilger, Alina C., Tasic, Velibor, Shril, Shirlee, Sanna-Cherchi, Simone, Hildebrandt, Friedhelm
Published in European urology open science (Online) (01.10.2022)
Published in European urology open science (Online) (01.10.2022)
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Journal Article
Mendelian Randomization Unveils Drug Targets for IgA Nephropathy
Khan, Atlas, Lim, Tze Y, Sanna-Cherchi, Simone
Published in Journal of the American Society of Nephrology (01.08.2024)
Published in Journal of the American Society of Nephrology (01.08.2024)
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Journal Article
ParseCNV2: a versatile and integrated tool for copy number variation association studies
Lim, Tze Y, Verbitsky, Miguel, Sanna-Cherchi, Simone
Published in European journal of human genetics : EJHG (01.03.2023)
Published in European journal of human genetics : EJHG (01.03.2023)
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Journal Article
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasà, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simões-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., Sanna-Cherchi, Simone
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
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Journal Article
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marjia, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A
Published in The Journal of clinical investigation (15.05.2023)
Published in The Journal of clinical investigation (15.05.2023)
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Journal Article
Genomic Disorders in CKD across the Lifespan
Verbitsky, Miguel, Krishnamurthy, Sarathbabu, Krithivasan, Priya, Hughes, Daniel, Khan, Atlas, Marasà, Maddalena, Vena, Natalie, Khosla, Pavan, Zhang, Junying, Lim, Tze Y, Glessner, Joseph T, Weng, Chunhua, Shang, Ning, Shen, Yufeng, Hripcsak, George, Hakonarson, Hakon, Ionita-Laza, Iuliana, Levy, Brynn, Kenny, Eimear E, Loos, Ruth J F, Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Crosslin, David R, Furth, Susan, Warady, Bradley A, Igo, Jr, Robert P, Iyengar, Sudha K, Wong, Craig S, Parsa, Afshin, Feldman, Harold I, Gharavi, Ali G
Published in Journal of the American Society of Nephrology (01.04.2023)
Published in Journal of the American Society of Nephrology (01.04.2023)
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Journal Article
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families
Pantel, Dalia, Mertens, Nils D., Schneider, Ronen, Hölzel, Selina, Kari, Jameela A., Desoky, Sherif El, Shalaby, Mohamed A., Lim, Tze Y., Sanna-Cherchi, Simone, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Pediatric nephrology (Berlin, West) (01.02.2024)
Published in Pediatric nephrology (Berlin, West) (01.02.2024)
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Journal Article
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome
Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, Sampson, Matthew G.
Published in Nature communications (29.04.2023)
Published in Nature communications (29.04.2023)
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Journal Article
GWAS in Mice Maps Susceptibility to HIV-Associated Nephropathy to the Ssbp2 Locus
Steers, Nicholas J, Gupta, Yask, D'Agati, Vivette D, Lim, Tze Y, DeMaria, Natalia, Mo, Anna, Liang, Judy, Stevens, Kelsey O, Ahram, Dina F, Lam, Wan Yee, Gagea, Mihai, Nagarajan, Lalitha, Sanna-Cherchi, Simone, Gharavi, Ali G
Published in Journal of the American Society of Nephrology (01.01.2022)
Published in Journal of the American Society of Nephrology (01.01.2022)
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Journal Article
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease
Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., Sanna-Cherchi, Simone
Published in Nature communications (30.11.2023)
Published in Nature communications (30.11.2023)
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Journal Article
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy
Wooden, Benjamin, Beenken, Andrew, Martinelli, Elena, Saida, Ken, Knob, Andrea L, Ke, Juntao, Pisani, Isabella, Jin, Gina, Lane, Brandon, Mitrotti, Adele, Colby, Elizabeth, Lim, Tze Y, Guglielmi, Francesca, Osborne, Amy J, Ahram, Dina F, Wang, Chen, Armand, Farid, Zanoni, Francesca, Bomback, Andrew S, Delsante, Marco, Appel, Gerald B, Ferrari, Massimo R A, Martino, Jeremiah, Sahdeo, Sunil, Breckenridge, David, Petrovski, Slavé, Paul, Dirk S, Hall, Gentzon, Magistroni, Riccardo, Murtas, Corrado, Feriozzi, Sandro, Rampino, Teresa, Esposito, Pasquale, Helmuth, Margaret E, Sampson, Matthew G, Kretzler, Matthias, Kiryluk, Krzysztof, Shril, Shirlee, Gesualdo, Loreto, Maggiore, Umberto, Fiaccadori, Enrico, Gbadegesin, Rasheed, Santoriello, Dominick, D'Agati, Vivette D, Saleem, Moin A, Gharavi, Ali G, Hildebrandt, Friedhelm, Pollak, Martin R, Goldstein, David B, Sanna-Cherchi, Simone
Published in Journal of the American Society of Nephrology (01.10.2024)
Published in Journal of the American Society of Nephrology (01.10.2024)
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Journal Article
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz, Schmaderer, Christoph, Rogg, Manuel, Schell, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian J., Ozaltin, Fatih, Schmidts, Miriam, Hoefele, Julia
Published in Kidney international (01.04.2024)
Published in Kidney international (01.04.2024)
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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
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
Published in American journal of human genetics (04.02.2021)
Published in American journal of human genetics (04.02.2021)
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Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies
Martino, Jeremiah, Liu, Qingxue, Vukojevic, Katarina, Ke, Juntao, Lim, Tze Y., Khan, Atlas, Gupta, Yask, Perez, Alejandra, Yan, Zonghai, Milo Rasouly, Hila, Vena, Natalie, Lippa, Natalie, Giordano, Jessica L., Saraga, Marijan, Saraga-Babic, Mirna, Westland, Rik, Bodria, Monica, Piaggio, Giorgio, Bendapudi, Pavan K., Iglesias, Alejandro D., Wapner, Ronald J., Tasic, Velibor, Wang, Fan, Ionita-Laza, Iuliana, Ghiggeri, Gian Marco, Kiryluk, Krzysztof, Sampogna, Rosemary V., Mendelsohn, Cathy L., D’Agati, Vivette D., Gharavi, Ali G., Sanna-Cherchi, Simone
Published in Genetics in medicine (01.12.2023)
Published in Genetics in medicine (01.12.2023)
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Evaluation of the MIM Symphony treatment planning system for low‐dose‐rate‐ prostate brachytherapy
Dhanesar, Sandeep K., Lim, Tze Y., Du, Weiliang, Bruno, Teresa L., Frank, Steven J., Kudchadker, Rajat J.
Published in Journal of applied clinical medical physics (08.09.2015)
Published in Journal of applied clinical medical physics (08.09.2015)
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Journal Article
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Riedhammer, Korbinian M, Nguyen, Thanh-Minh T, Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V, Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M, Seisenberger, Claudia, Haug, Stefan, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, de Angelis, Martin Hrabe, Ćomić, Jasmina, Doğan, Özlem Akgün, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Ćalışkan, Salim, Weber, Ruthild, Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y, Hildebrandt, Friedhelm, Alhaddad, Bader, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian, Renders, Lutz, Schmaderer, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian, Ozaltin, Fatih, Schmidts, Miriam, Hoefele, Julia
Published in medRxiv : the preprint server for health sciences (22.03.2023)
Published in medRxiv : the preprint server for health sciences (22.03.2023)
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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
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
Published in American journal of human genetics (01.10.2020)
Published in American journal of human genetics (01.10.2020)
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Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis
Ahram, Dina F, Lim, Tze Y, Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E, Marasa, Maddalena, Zhang, Jun Y, Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J, Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P, Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B, Uy, Natalie S, Rao, Maya K, Canetta, Pietro A, Bomback, Andrew S, Nestor, Jordan G, Hays, Thomas, Cohen, David J, Finale, Carolina, Wijk, Joanna A E van, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P, Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G, Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, Sanna-Cherchi, Simone
Published in Journal of the American Society of Nephrology (01.06.2023)
Published in Journal of the American Society of Nephrology (01.06.2023)
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Journal Article
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux
Verbitsky, Miguel, Krithivasan, Priya, Batourina, Ekaterina, Khan, Atlas, Graham, Sarah E, Marasà, Maddalena, Kim, Hyunwoo, Lim, Tze Y, Weng, Patricia L, Sánchez-Rodríguez, Elena, Mitrotti, Adele, Ahram, Dina F, Zanoni, Francesca, Fasel, David A, Westland, Rik, Sampson, Matthew G, Zhang, Jun Y, Bodria, Monica, Kil, Byum Hee, Shril, Shirlee, Gesualdo, Loreto, Torri, Fabio, Scolari, Francesco, Izzi, Claudia, van Wijk, Joanna A E, Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Barton, David E, Dobson, Mark G, Puri, Prem, Furth, Susan L, Warady, Bradley A, Pisani, Isabella, Fiaccadori, Enrico, Allegri, Landino, Degl'Innocenti, Maria Ludovica, Piaggio, Giorgio, Alam, Shumyle, Gigante, Maddalena, Zaza, Gianluigi, Esposito, Pasquale, Lin, Fangming, Simões-E-Silva, Ana Cristina, Brodkiewicz, Andrzej, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Szczepanska, Maria, Adamczyk, Piotr, Tkaczyk, Marcin, Tomczyk, Daria, Sikora, Przemyslaw, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Lozanovski, Vladimir J, Gucev, Zoran, Ionita-Laza, Iuliana, Stanaway, Ian B, Crosslin, David R, Wong, Craig S, Hildebrandt, Friedhelm, Barasch, Jonathan, Kenny, Eimear E, Loos, Ruth J F, Levy, Brynn, Ghiggeri, Gian Marco, Hakonarson, Hakon, Latos-Bieleńska, Anna, Materna-Kiryluk, Anna, Darlow, John M, Tasic, Velibor, Willer, Cristen, Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Mendelsohn, Cathy L, Gharavi, Ali G
Published in Journal of the American Society of Nephrology (01.04.2021)
Published in Journal of the American Society of Nephrology (01.04.2021)
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