Urogenital Abnormalities
Zhao, E., Bomback, M., Khan, A., Krishna Murthy, S., Solowiejczyk, D., Vora, N. L., Gilmore, K. L., Giordano, J. L., Wapner, R. J., Sanna‐Cherchi, S., Lyford, A., Jelin, A. C., Gharavi, A. G., & Hays, T. (2024). The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease. Prenatal Diagnosis, 44(3), 343–351. Portico. https://doi.org/10.1002/pd.6527
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Columbia Affiliation
Riedhammer, K. M., Nguyen, T.-M. T., Koşukcu, C., Calzada-Wack, J., Li, Y., Assia Batzir, N., Saygılı, S., Wimmers, V., Kim, G.-J., Chrysanthou, M., Bakey, Z., Sofrin-Drucker, E., Kraiger, M., Sanz-Moreno, A., Amarie, O. V., Rathkolb, B., Klein-Rodewald, T., Garrett, L., Hölter, S. M., … Hoefele, J. (2024). Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). Kidney International, 105(4), 844–864. https://doi.org/10.1016/j.kint.2023.11.032
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Columbia Affiliation
Martino, J., Liu, Q., Vukojevic, K., Ke, J., Lim, T. Y., Khan, A., Gupta, Y., Perez, A., Yan, Z., Milo Rasouly, H., Vena, N., Lippa, N., Giordano, J. L., Saraga, M., Saraga-Babic, M., Westland, R., Bodria, M., Piaggio, G., Bendapudi, P. K., … Sanna-Cherchi, S. (2023). Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies. Genetics in Medicine, 25(12), 100983. https://doi.org/10.1016/j.gim.2023.100983
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Columbia Affiliation
Vagelos College of Physicians and Surgeons; Department of Medicine; Division of Nephrology; Department of Obstetrics and Gynecology; Department of Biostatistics; Department of Pathology and Cell Biology; Department of Urology; Department of Pediatrics; Mailman School of Public Health; Department of Genetics and Development; Columbia Stem Cell Initiative
Leow, E. H., Lee, J. H., Hornik, C. P., Ng, Y. H., Hays, T., Clark, R. H., Tolia, V. N., & Greenberg, R. G. (2022). Congenital anomalies of the kidney and urinary tract (CAKUT) in critically ill infants: a multicenter cohort study. Pediatric Nephrology, 38(1), 161–172. https://doi.org/10.1007/s00467-022-05542-0
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Columbia Affiliation
Movassaghi, M., Chung, R., Moran, G. W., & Carpenter, C. P. (2022). Rare case of an isolated scaphoid congenital megalourethra: before and after reconstruction. Canadian Journal of Urology, 29(5), 11326–11328.
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Columbia Affiliation
Khan, K., Ahram, D. F., Liu, Y. P., Westland, R., Sampogna, R. V., Katsanis, N., Davis, E. E., & Sanna-Cherchi, S. (2022). Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations. Kidney International, 101(3), 473–484. https://doi.org/10.1016/j.kint.2021.09.034
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Columbia Affiliation
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