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Ada Hamosh

Professor

1990 …2024

Research activity per year

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  • Implementation of a dyadic nomenclature for monogenic diseases

    Thaxton, C., Biesecker, L. G., DiStefano, M., Haendel, M., Hamosh, A., Owens, E., Plon, S. E., Rehm, H. L. & Berg, J. S., Sep 5 2024, In: American journal of human genetics. 111, 9, p. 1810-1818 9 p.

    Research output: Contribution to journal › Review article › peer-review

    Open Access

  • Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation

    Manoli, I., Sysol, J. R., Head, P. S. E., Epping, M. W., Gavrilova, O., Crocker, M. K., Sloan, J. L., Koutsoukos, S. A., Wang, C., Ktena, Y. P., Mendelson, S., Pass, A. R., Zerfas, P. M., Hoffmann, V., Vernon, H. J., Fletcher, L. A., Reynolds, J. C., Tsokos, M. G., Stratakis, C. A. & Voss, S. D. & 7 others, Chen, K. Y., Brown, R. J., Hamosh, A., Berry, G. T., Chen, X. S., Yanovski, J. A. & Venditti, C. P., 2024, In: JCI Insight. 9, 4, e174097.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency

    Ferguson, C., Madison, A., Hamosh, A. & Koerner, C., Nov 2024, In: JIMD Reports. 65, 6, p. 401-405 5 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases

    Wang, C. M., Whiting, A. H., Rath, A., Anido, R., Ardigò, D., Baynam, G., Dawkins, H., Hamosh, A., Le Cam, Y., Malherbe, H., Molster, C. M., Monaco, L., Padilla, C. D., Pariser, A. R., Robinson, P. N., Rodwell, C., Schaefer, F., Weber, S. & Macchia, F., Dec 2024, In: Orphanet journal of rare diseases. 19, 1, 334.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • The Human Phenotype Ontology in 2024: phenotypes around the world

    Gargano, M. A., Matentzoglu, N., Coleman, B., Addo-Lartey, E. B., Anagnostopoulos, A. V., Anderton, J., Avillach, P., Bagley, A. M., Bakštein, E., Balhoff, J. P., Baynam, G., Bello, S. M., Berk, M., Bertram, H., Bishop, S., Blau, H., Bodenstein, D. F., Botas, P., Boztug, K. & Čady, J. & 156 others, Callahan, T. J., Cameron, R., Carbon, S. J., Castellanos, F., Caufield, J. H., Chan, L. E., Chute, C. G., Cruz-Rojo, J., Dahan-Oliel, N., Davids, J. R., Dieuleveult, M., Souza, V., de Vries, B. B. A., Vries, E., DePaulo, J. R., Derfalvi, B., Dhombres, F., Diaz-Byrd, C., Dingemans, A. J. M., Donadille, B., Duyzend, M., Elfeky, R., Essaid, S., Fabrizzi, C., Fico, G., Firth, H. V., Freudenberg-Hua, Y., Fullerton, J. M., Gabriel, D. L., Gilmour, K., Giordano, J., Goes, F. S., Moses, R. G., Green, I., Griese, M., Groza, T., Gu, W., Guthrie, J., Gyori, B., Hamosh, A., Hanauer, M., Hanušová, K., He, Y., Hegde, H., Helbig, I., Holasová, K., Hoyt, C. T., Huang, S., Hurwitz, E., Jacobsen, J. O. B., Jiang, X., Joseph, L., Keramatian, K., King, B., Knoflach, K., Koolen, D. A., Kraus, M. L., Kroll, C., Kusters, M., Ladewig, M. S., Lagorce, D., Lai, M. C., Lapunzina, P., Laraway, B., Lewis-Smith, D., Li, X., Lucano, C., Majd, M., Marazita, M. L., Martinez-Glez, V., McHenry, T. H., McInnis, M. G., McMurry, J. A., Mihulová, M., Millett, C. E., Mitchell, P. B., Moslerová, V., Narutomi, K., Nematollahi, S., Nevado, J., Nierenberg, A. A., Čajbiková, N. N., Nurnberger, J. I., Ogishima, S., Olson, D., Ortiz, A., Pachajoa, H., Nanclares, G. P., Peters, A., Putman, T., Rapp, C. K., Rath, A., Reese, J., Rekerle, L., Roberts, A. M., Roy, S., Sanders, S. J., Schuetz, C., Schulte, E. C., Schulze, T. G., Schwarz, M., Scott, K., Seelow, D., Seitz, B., Shen, Y., Similuk, M. N., Simon, E. S., Singh, B., Smedley, D., Smith, C. L., Smolinsky, J. T., Sperry, S., Stafford, E., Stefancsik, R., Steinhaus, R., Strawbridge, R., Sundaramurthi, J. C., Talapova, P., Castano, J. A. T., Tesner, P., Thomas, R. H., Thurm, A., Turnovec, M., van Gijn, M. E., Vasilevsky, N. A., Vlčková, M., Walden, A., Wang, K., Wapner, R., Ware, J. S., Wiafe, A. A., Wiafe, S. A., Wiggins, L. D., Williams, A. E., Wu, C., Wyrwoll, M. J., Xiong, H., Yalin, N., Yamamoto, Y., Yatham, L. N., Yocum, A. K., Young, A. H., Yüksel, Z., Zandi, P. P., Zankl, A., Zarante, I., Zvolský, M., Toro, S., Carmody, L. C., Harris, N. L., Munoz-Torres, M. C., Danis, D., Mungall, C. J., Köhler, S., Haendel, M. A. & Robinson, P. N., Jan 5 2024, In: Nucleic acids research. 52, D1, p. D1333-D1346

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 144 Research outputs