Publications


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

Verbitsky M., Krithivasan P., Batourina E., Khan,A., Graham S. E., Marasa M, Kim, H., Weng, P. L., Sanchez-Rodrigues, E., Mitrotti, A., Ahram, D., Zanoni, F., Fasel, D., Westland, R., Sampson, M. G., Zhang, J. Y., Bodria, M., Kil, B. H., Shri, S., Gesualdo, L., Torri, F., Scolari, F., Izzi, C., van Wijk, J. A., Saraga-Babic, M., Santoro, D., Conti, C., Barton, D., Dobson, M. G., Puri, P., Furth, S. L., Warady, B. A., Pisani, I., Fiaccadori, E., Allegri, L., Degl’Innocenti, M. L., Plaggio, G., Alam, S., Gigante, B., Zaza, G., Esposito, C., Lin, F., Simões-e-Silva, A. C., Brodkiewicz, A., Drozdz, D., Zachwieja, K., Miklaszewska, M., Szczepanska, M., Adamczyk, P., Tkaczyk, M., Tomczyk, D., Sikora, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Lozanovski, V. J., Gucev, Z., Ionita-Laza, I., Stanaway, I., Crosslin, D., Wong, C., Hildebrand, M. S., Barasch, J., Kenny, E., Loos, R. J., Levy, B., Ghiggeri, G., Hakonarson, H., Latos-Bielenska, A., Materna-Kiryluk, A., Darlow, J. M., Tasic, V., Willeit, J., Kiryluk, K., Sanna-Cherchi, S., Mendelsohn, C. & Gharavi, A.G*. J. Am. Soc. Nephrol. 2020 in press.

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The Genomic Landscape of Congenital Anomalies of the Kidney and Urinary Tract

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Einzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Sim√µes-e-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE*, Mendelsohn CL*, Gharavi AG*, and Sanna-Cherchi S*. Nature Genetics. 2019 51:117-127.

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Exome-Wide Association Study Identifies GREB1L Mutations in Congenital Kidney

Sanna-Cherchi S*, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M,. Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Goj V, Na, YJ, Ardissino G, Gigante M, Gesualdo L, Zaniew M, Legutko M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JA, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Goldstein DB, Lifton RP, Katsanis N, Davis EE*, and Gharavi AG*. Malformations Am. J. Hum. Genet. 2017, 101(5):789-802

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovsk VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. New England Journal of Medicine. 2017 376(8):742-754.

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