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Journal Article
by Lopez-Rivera, Esther and Liu, Qingxue and Liu, Yangfan P and Verbitsky, Miguel and Anderson, Blair R and Capone, Valentina P and Otto, Edgar A and Yan, Zhonghai and Mitrotti, Adele and Martino, Jeremiah and Steers, Nicholas J and Fasel, David A and Vukojevic, Katarina and Deng, Rong and Racedo, Silvia E and Werth, Max and Westland, Rik and Vivante, Asaf and Makar, Gabriel S and Bodria, Monica and Sampson, Matthew G and Gillies, Christopher E and Vega-Warner, Virginia and Maiorana, Mariarosa and Petrey, Donald S and Honig, Barry and Lozanovski, Vladimir J and Salomon, Rémi and Heidet, Laurence and Carpentier, Wassila and Gaillard, Dominique and Carrea, Alba and Gesualdo, Loreto and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A.E and Arapovic, Adela and Saraga-Babic, Mirna and Saraga, Marijan and Kunac, Nenad and Samii, Ali and McDonald-McGinn, Donna M and Crowley, Terrence B and Zackai, Elaine H and Drozdz, Dorota and Miklaszewska, Monika and Tkaczyk, Marcin and Sikora, Przemyslaw and Szczepanska, Maria and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Darlow, John M and Puri, Prem and Barton, David and Casolari, Emilio and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Hakonarson, Hakon and Flogelova, Hana and Tasic, Velibor and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Allegri, Landino and Wong, Craig S and Drummond, Iain A and D’Agati, Vivette and Imamoto, Akira and Barasch, Jonathan M and Hildebrandt, Friedhelm and Kiryluk, Krzysztof and Lifton, Richard P and Morrow, Bernice E and Jeanpierre, Cecile and Papaioannou, Virginia E and Ghiggeri, Gian Marco and Gharavi, Ali G and Katsanis, Nicholas and Sanna-Cherchi, Simone
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 8, pp. 742 - 754
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasà, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A. E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simões-e-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 117 - 127
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome... 
CAKUT | SETBP1 | EYA1 | SIX5 | WNT5A | HSPA4L | HNF1B | GATA3 | PAX2 | GENETIC-VARIATION | ANOMALIES | ABNORMALITIES | URINARY-TRACT | CANDIDATE GENES | DISEASE | GENETICS & HEREDITY | RISK | RENAL HYPODYSPLASIA | EPIDEMIOLOGY | CHILDREN
Journal Article
Journal Article
by Verbitsky, Miguel and Westland, Rik and Perez, Alejandra and Kiryluk, Krzysztof and Liu, Qingxue and Krithivasan, Priya and Mitrotti, Adele and Fasel, David A and Batourina, Ekaterina and Sampson, Matthew G and Bodria, Monica and Werth, Max and Kao, Charlly and Martino, Jeremiah and Capone, Valentina P and Vivante, Asaf and Shril, Shirlee and Kil, Byum Hee and Marasa, Maddalena and Zhang, Jun Y and Na, Young-Ji and Lim, Tze Y and Ahram, Dina and Weng, Patricia L and Heinzen, Erin L and Carrea, Alba and Piaggio, Giorgio and Gesualdo, Loreto and Manca, Valeria and Masnata, Giuseppe and Gigante, Maddalena and Cusi, Daniele and Izzi, Claudia and Scolari, Francesco and van Wijk, Joanna A E and Saraga, Marijan and Santoro, Domenico and Conti, Giovanni and Zamboli, Pasquale and White, Hope and Drozdz, Dorota and Zachwieja, Katarzyna and Miklaszewska, Monika and Tkaczyk, Marcin and Tomczyk, Daria and Krakowska, Anna and Sikora, Przemyslaw and Jarmoliński, Tomasz and Borszewska-Kornacka, Maria K and Pawluch, Robert and Szczepanska, Maria and Adamczyk, Piotr and Mizerska-Wasiak, Malgorzata and Krzemien, Grazyna and Szmigielska, Agnieszka and Zaniew, Marcin and Dobson, Mark G and Darlow, John M and Puri, Prem and Barton, David E and Furth, Susan L and Warady, Bradley A and Gucev, Zoran and Lozanovski, Vladimir J and Tasic, Velibor and Pisani, Isabella and Allegri, Landino and Rodas, Lida M and Campistol, Josep M and Jeanpierre, Cécile and Alam, Shumyle and Casale, Pasquale and Wong, Craig S and Lin, Fangming and Miranda, Débora M and Oliveira, Eduardo A and Simoes-E-Silva, Ana Cristina and Barasch, Jonathan M and Levy, Brynn and Wu, Nan and Hildebrandt, Friedhelm and Ghiggeri, Gian Marco and Latos-Bielenska, Anna and Materna-Kiryluk, Anna and Zhang, Feng and Hakonarson, Hakon and Papaioannou, Virginia E and Mendelsohn, Cathy L and Gharavi, Ali G and Sanna-Cherchi, Simone
Nature genetics, ISSN 1061-4036, 02/2019, Volume 51, Issue 4, pp. 764 - 764
In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal... 
Medical colleges | Genetic disorders | Urinary tract | Congenital defects | Copy number | Urogenital system | Congenital anomalies
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 789 - 802
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 1, pp. 222 - 230.e4
Journal Article
by Boero, Ferdinando and Foglini, Federica and Fraschetti, Simona and Goriup, Paul and Macpherson, Enrique and Planes, Serge and Soukissian, Takvor and Adiloglu, Baris and Cristens, Gween and Delahaye, Catherine and Gregory, Ignace and Jacques, Sophie and Velkova, Stanislava and Kontogianni, Areti and Tourkolias, Christos and Kollaras, Aggelos and Damigos, Dimitris and Skourtos, Michalis and Bianco, Luisella and Cesarini, Claudia and Aliani, Stefano and Angeletti, Lorenzo and Barbieri, Laura and Beroldo, Raffaella and Falcieri, Francesco and Grande, Valentina and Griffa, Annalisa and Langone, Leonardo and Lazzari, Paolo and Lobato, Tomas and Miserocchi, Stefano and Palamà, Daniela and Sclavo, Mauro and Solidoro, Cosimo and Suaria, Giuseppe and Taviani, Marco and Toncini, Annamaria and Trincardi, Fabio and Vichi, Marcello and Chassanite, Aurore and Claudet, Joachim and Feral, François and Marill, Laurence and Villa, Elisa and Taquet, Coralie and Boissin, Emilie and Mangialajo, Luisa and Bottin, Lorraine and Paravicini, Valeriano and Baksay, Sandra and Neglia, Valentina and Legoff, Marion and Dinoi, Alessia and Sahyoun, Rita and Bitetto, Isabella and Lembo, Giuseppe and Spedicato, Maria Teresa and Aglieri, Giorgio and Albano, Gabriele and Albano, Orazio and Arena, Giuseppe and Asnaghi, Valentina and Bavestrello, Giorgio and Belmonte, Genuario and Cecchi, Lisandro Benedetti and Bevilacqua, Stanislao and Bo, Marzia and Boscari, Elisa and Bulleri, Fabio and Calculli, Crescenza and Capezzuto, Francesca and Capone, Antonio and Carlucci, Roberto and Carluccio, Angela and Casagrandi, Renato and Vietti, Riccardo Cattaneo and Chiantore, Mariachiara and Chimienti, Giovanni and Ciardo, Lucia and Congiu, Leonardo and Corselli, Cesare and Cutrona, Annibale and D'Onghia, Gianfranco and Bello, Martina Dal and Mura, Ilaria Dalle and De Leo, Francesco and De Leo, Giulio and De Vito, Doris and Di Bella, Marco and Di Camillo, Cristina Gioia and Di Mauro, Maria and Fai, Sergio and Farella, Giulio and Forin, Niccolò and Gatto, Marino and Ghermandi, Andrea and Giangrande, Elisa and Granata, Antonia and Gravili, Cinzia and Guarnieri, Giuseppe and ...
SCIRES-IT, 2016, Volume 6, pp. 1 - 95
Journal Article
by Peterlongo, Paolo and Catucci, Irene and Colombo, Mara and Caleca, Laura and Mucaki, Eliseos and Bogliolo, Massimo and Marin, Maria and Damiola, Francesca and Bernard, Loris and Pensotti, Valeria and Volorio, Sara and Dall'Olio, Valentina and Meindl, Alfons and Bartram, Claus and Sutter, Christian and Surowy, Harald and Sornin, Valérie and Dondon, Marie-Gabrielle and Eon-Marchais, Séverine and Stoppa-Lyonnet, Dominique and Andrieu, Nadine and Sinilnikova, Olga M and Mitchell, Gillian and James, Paul A and Thompson, Ella and Marchetti, Marina and Verzeroli, Cristina and Tartari, Carmen and Capone, Gabriele Lorenzo and Putignano, Anna Laura and Genuardi, Maurizio and Medici, Veronica and Marchi, Isabella and Federico, Massimo and Tognazzo, Silvia and Matricardi, Laura and Agata, Simona and Dolcetti, Riccardo and Puppa, Lara Della and Cini, Giulia and Gismondi, Viviana and Viassolo, Valeria and Perfumo, Chiara and Mencarelli, Maria Antonietta and Baldassarri, Margherita and Peissel, Bernard and Roversi, Gaia and Silvestri, Valentina and Rizzolo, Piera and Spina, Francesca and Vivanet, Caterina and Tibiletti, Maria Grazia and Caligo, Maria Adelaide and Gambino, Gaetana and Tommasi, Stefania and Pilato, Brunella and Tondini, Carlo and Corna, Chiara and Bonanni, Bernardo and Barile, Monica and Osorio, Ana and Benitez, Javier and Balestrino, Luisa and Ottini, Laura and Manoukian, Siranoush and Pierotti, Marco A and Renieri, Alessandra and Varesco, Liliana and Couch, Fergus J and Wang, Xianshu and Devilee, Peter and Hilbers, Florentine S and van Asperen, Christi J and Viel, Alessandra and Montagna, Marco and Cortesi, Laura and Diez, Orland and Balmaña, Judith and Hauke, Jan and Schmutzler, Rita K and Papi, Laura and Pujana, Miguel Angel and Lázaro, Conxi and Falanga, Anna and Offit, Kenneth and Vijai, Joseph and Campbell, Ian and Burwinkel, Barbara and Kvist, Anders and Ehrencrona, Hans and Mazoyer, Sylvie and Pizzamiglio, Sara and Verderio, Paolo and Surralles, Jordi and Rogan, Peter K and Radice, Paolo and GENESIS and KConFab and SWE-BRCA and kConFab and Onkologi och Patologi, MV and Familial Breast Cancer and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet and Familjär bröstcancer
Human Molecular Genetics, ISSN 0964-6906, 04/2015, Volume 24, Issue 18, pp. 5345 - 5355
Journal Article
by Tamburini, Christian and Canals, Miquel and de Maon, Xavier Durrieu and Houpert, Loic and Lefevre, Dominique and Martini, Verine and D'Ortenzio, Fabrizio and Robert, Anne and Testor, Pierre and Aguilar, Juan Antonio and Al Samarai, Imen and Albert, Arnaud and Ane, Michel and Anghinolfi, Marco and Anton, Gisela and Anvar, Shebli and Ardid, Miguel and Jesus, Ana Carolina Assis and Astraatmadja, Tri L and Aubert, Jean-Jacques and Baret, Bruny and Basa, Stephane and Bertin, Vincent and Biagi, Simone and Bigi, Armando and Bigongiari, Ciro and Bogazzi, Claudio and Bou-Cabo, Manuel and Bouhou, Boutayeb and Bouwhuis, Mieke C and Brunner, Jurgen and Busto, Jose and Camarena, Francisco and Capone, Antonio and Carloganu, Christina and Carminati, Giada and Carr, John and Cecchini, Stefano and Charif, Ziad and Charvis, Philippe and Chiarusi, Tommaso and Circella, Marco and Coniglione, Rosa and Costantini, Heide and Coyle, Paschal and Curtil, Christian and Decowski, Patrick and Dekeyser, Ivan and Deschamps, Anne and Donzaud, Corinne and Dornic, Damien and Dorosti, Hasankiadeh Q and uhin, Doriane and Eberl, Thomas and Emanuele, Umberto and Ernenwein, Jean-Pierre and Escoffier, Stephanie and Fermani, Paolo and Ferri, Marcelino and Flaminio, Vincenzo and Folger, Florian and Fritsch, Ulf and Fuda, Jean-Luc and Galata, Salvatore and Gay, Pascal and Giacomelli, Giorgio and Giordano, Valentina and Gomez-Gonzalez, Juan-Pablo and Graf, Kay and Guillard, Goulven and Halladjian, Garadeb and Hallewell, Gregory and van Haren, Hans and Hartman, Joris and Heijboer, Aart J and Hello, Yann and Hernandez-Rey, Juan Jose and Herold, Bjoern and Hossl, Jurgen and Hsu, Ching-Cheng and de Jong, Marteen and Kadler, Matthias and Kalekin, Oleg and Kappes, Alexander and Katz, Uli and Kavatsyuk, Oksana and Kooijman, Paul and Kopper, Claudio and Kouchner, Antoine and Kreykenbohm, Ingo and Kulikovskiy, Vladimir and Lahmann, Robert and Lamare, Patrick and Larosa, Giuseppina and Lattuada, Dario and Lim, Gordon and Lo Presti, Domenico and Loehner, Herbert and Loucatos, Sotiris and Mangano, Salvatore and ...
PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, p. e67523
Journal Article