Publications
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.
Rare Genetic Causes of Complex Kidney and Urological Diseases
Groopman, EE, Povysil G, Goldstein DB, Gharavi AG. Nat Reviews Nephr. 2020, 16(11):641-656.
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C; Zhong Ren Z, Copeland B, Krithivasan P, Sanna-Cherchi S, Goldstein DB*, Gharavi AG. Ann Intern Med 2019;170(1):11-21.
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.
Genetics Basis of Human Congenital Defects of the Kidney and Urinary Tract
Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG*. Journal of Clinical Investigation, 2018 128(1):4-15.
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
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.
Copy Number Variation Analysis Identifies Novel CAKUT Candidate Genes in Children With a Solitary Functioning Kidney
Westland R, Verbitsky M, Vukojevic K, Perry BJ, Fasel DA, Zwijnenburg PJ, Bökenkamp A, Gille JJ, Saraga-Babic M, Ghiggeri GM, D'Agati VD, Schreuder MF, Gharavi AG, van Wijk JA, Sanna-Cherchi S. Kidney Int. 2015;88(6):1402-1410.
Genomic Imbalances in Pediatric Patients With Chronic Kidney Disease
Verbitsky M, Sanna-Cherchi S, Fasel, A, Levy B, Kiryluk, K, Wuttke M, Abraham AG, Kaskel F, Köttgen, A, Warady BA, Furth SL, Wong CS, Gharavi AG. J. Clin Invest 2015: 125:2171-8