Genomic imbalances in pediatric patients with chronic kidney disease

由 Verbitsky, Miguel, Sanna-Cherchi, Simone, Fasel, David A., Levy, Brynn, Kiryluk, Krzysztof, Wuttke, Matthias, Abraham, Alison G., Kaskel, Frederick, Köttgen, Anna, Warady, Bradley A., Furth, Susan L., Wong, Craig S., Gharavi, Ali G.
發表在 J Clin Invest (2015)

GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing

由 Milo Rasouly, Hila, Cuneo, Nicole, Marasa, Maddalena, DeMaria, Natalia, Chatterjee, Debanjana, Thompson, Jacqueline J., Fasel, David A., Wynn, Julia, Chung, Wendy K., Appelbaum, Paul, Weng, Chunhua, Bakken, Suzanne, Gharavi, Ali G.
發表在 J Genet Couns (2020)

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

由 Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D’Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone
發表在 Kidney Int (2015)

Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study

由 Lata, Sneh, Marasa, Maddalena, Li, Yifu, Fasel, David A., Groopman, Emily, Jobanputra, Vaidehi, Rasouly, Hila, Mitrotti, Adele, Westland, Rik, Verbitsky, Miguel, Nestor, Jordan, Slater, Lindsey M., D’Agati, Vivette, Zaniew, Marcin, Materna-Kiryluk, Anna, Lugani, Francesca, Caridi, Gianluca, Rampoldi, Luca, Mattoo, Aditya, Newton, Chad A., Rao, Maya K., Radhakrishan, Jai, Ahn, Wooin, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Antignac, Corinne, Markowitz, Glen S., Garcia, Christine K., Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Gharavi, Ali G.
發表在 Ann Intern Med (2017)

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

由 Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Kiryluk, Anna-Materna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.
發表在 Am J Hum Genet (2017)

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

由 Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G.
發表在 Am J Hum Genet (2017)

Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

由 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.
發表在 J Am Soc Nephrol (2021)

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

由 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., 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
發表在 Nat Genet (2018)