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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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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Author Correction: 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, Marasa, 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, Simoes-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 (01.04.2019)
Published in Nature genetics (01.04.2019)
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Mutation screening of ACKR3 and COPS8 in kidney cancer cases from the CONFIRM study
Mahmoodi, Maryam, Nguyen-Dumont, Tu, Hammet, Fleur, Pope, Bernard J., Park, Daniel J., Southey, Melissa C., Darlow, John M., Bruinsma, Fiona, Winship, Ingrid
Published in Familial cancer (01.07.2017)
Published in Familial cancer (01.07.2017)
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Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux
Darlow, John M, Darlay, Rebecca, Dobson, Mark G, Stewart, Aisling, Charoen, Pimphen, Southgate, Jennifer, Baker, Simon C, Xu, Yaobo, Hunziker, Manuela, Lambert, Heather J, Green, Andrew J, Santibanez-Koref, Mauro, Sayer, John A, Goodship, Timothy H J, Puri, Prem, Woolf, Adrian S, Kenda, Rajko B, Barton, David E, Cordell, Heather J
Published in Scientific reports (08.01.2018)
Published in Scientific reports (08.01.2018)
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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Lopez-Rivera, Esther, Liu, Yangfan P, Verbitsky, Miguel, Anderson, Blair R, Capone, Valentina P, Otto, Edgar A, Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J, Fasel, David A, Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E, Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S, Bodria, Monica, Sampson, Matthew G, Gillies, Christopher E, Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S, Honig, Barry, Lozanovski, Vladimir J, Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E, Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M, Crowley, Terrence B, Zackai, Elaine H, Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M, Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L, Warady, Bradley A, Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S, Drummond, Iain A, D’Agati, Vivette, Imamoto, Akira, Barasch, Jonathan M, Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P, Morrow, Bernice E, Jeanpierre, Cecile, Papaioannou, Virginia E, Ghiggeri, Gian Marco, Gharavi, Ali G, Katsanis, Nicholas, Sanna-Cherchi, Simone
Published in The New England journal of medicine (23.02.2017)
Published in The New England journal of medicine (23.02.2017)
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Urinary tract effects of HPSE2 mutations
Stuart, Helen M, Roberts, Neil A, Hilton, Emma N, McKenzie, Edward A, Daly, Sarah B, Hadfield, Kristen D, Rahal, Jeffery S, Gardiner, Natalie J, Tanley, Simon W, Lewis, Malcolm A, Sites, Emily, Angle, Brad, Alves, Cláudia, Lourenço, Teresa, Rodrigues, Márcia, Calado, Angelina, Amado, Marta, Guerreiro, Nancy, Serras, Inês, Beetz, Christian, Varga, Rita-Eva, Silay, Mesrur Selcuk, Darlow, John M, Dobson, Mark G, Barton, David E, Hunziker, Manuela, Puri, Prem, Feather, Sally A, Goodship, Judith A, Goodship, Timothy H J, Lambert, Heather J, Cordell, Heather J, Saggar, Anand, Kinali, Maria, Lorenz, Christian, Moeller, Kristina, Schaefer, Franz, Bayazit, Aysun K, Weber, Stefanie, Newman, William G, Woolf, Adrian S
Published in Journal of the American Society of Nephrology (01.04.2015)
Published in Journal of the American Society of Nephrology (01.04.2015)
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