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Ada Hamosh

Professor

1990 …2024

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  • 2022

    Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Centers for Mendelian Genomics Consortium, Apr 2022, In: Genetics in Medicine. 24, 4, p. 784-797 14 p.

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

    Open Access
  • 2021

    GA4GH: International policies and standards for data sharing across genomic research and healthcare

    Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., Beckmann, J. S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J. K., Boughtwood, T. F., Bourque, G., Bowers, S. R., Brookes, A. J., Brudno, M., & 182 othersBrush, M. H., Bujold, D., Burdett, T., Buske, O. J., Cabili, M. N., Cameron, D. L., Carroll, R. J., Casas-Silva, E., Chakravarty, D., Chaudhari, B. P., Chen, S. H., Cherry, J. M., Chung, J., Cline, M., Clissold, H. L., Cook-Deegan, R. M., Courtot, M., Cunningham, F., Cupak, M., Davies, R. M., Denisko, D., Doerr, M. J., Dolman, L. I., Dove, E. S., Dursi, L. J., Dyke, S. O. M., Eddy, J. A., Eilbeck, K., Ellrott, K. P., Fairley, S., Fakhro, K. A., Firth, H. V., Fitzsimons, M. S., Fiume, M., Flicek, P., Fore, I. M., Freeberg, M. A., Freimuth, R. R., Fromont, L. A., Fuerth, J., Gaff, C. L., Gan, W., Ghanaim, E. M., Glazer, D., Green, R. C., Griffith, M., Griffith, O. L., Grossman, R. L., Groza, T., Guidry Auvil, J. M., Guigó, R., Gupta, D., Haendel, M. A., Hamosh, A., Hansen, D. P., Hart, R. K., Hartley, D. M., Haussler, D., Hendricks-Sturrup, R. M., Ho, C. W. L., Hobb, A. E., Hoffman, M. M., Hofmann, O. M., Holub, P., Hsu, J. S., Hubaux, J. P., Hunt, S. E., Husami, A., Jacobsen, J. O., Jamuar, S. S., Janes, E. L., Jeanson, F., Jené, A., Johns, A. L., Joly, Y., Jones, S. J. M., Kanitz, A., Kato, K., Keane, T. M., Kekesi-Lafrance, K., Kelleher, J., Kerry, G., Khor, S. S., Knoppers, B. M., Konopko, M. A., Kosaki, K., Kuba, M., Lawson, J., Leinonen, R., Li, S., Lin, M. F., Linden, M., Liu, X., Liyanage, I. U., Lopez, J., Lucassen, A. M., Lukowski, M., Mann, A. L., Marshall, J., Mattioni, M., Metke-Jimenez, A., Middleton, A., Milne, R. J., Molnár-Gábor, F., Mulder, N., Munoz-Torres, M. C., Nag, R., Nakagawa, H., Nasir, J., Navarro, A., Nelson, T. H., Niewielska, A., Nisselle, A., Niu, J., Nyrönen, T. H., O'Connor, B. D., Oesterle, S., Ogishima, S., Ota Wang, V., Paglione, L. A. D., Palumbo, E., Parkinson, H. E., Philippakis, A. A., Pizarro, A. D., Prlic, A., Rambla, J., Rendon, A., Rider, R. A., Robinson, P. N., Rodarmer, K. W., Rodriguez, L. L., Rubin, A. F., Rueda, M., Rushton, G. A., Ryan, R. S., Saunders, G. I., Schuilenburg, H., Schwede, T., Scollen, S., Senf, A., Sheffield, N. C., Skantharajah, N., Smith, A. V., Sofia, H. J., Spalding, D., Spurdle, A. B., Stark, Z., Stein, L. D., Suematsu, M., Tan, P., Tedds, J. A., Thomson, A. A., Thorogood, A., Tickle, T. L., Tokunaga, K., Törnroos, J., Torrents, D., Upchurch, S., Valencia, A., Guimera, R. V., Vamathevan, J., Varma, S., Vears, D. F., Viner, C., Voisin, C., Wagner, A. H., Wallace, S. E., Walsh, B. P., Williams, M. S., Winkler, E. C., Wold, B. J., Wood, G. M., Woolley, J. P., Yamasaki, C., Yates, A. D., Yung, C. K., Zass, L. J., Zaytseva, K., Zhang, J., Goodhand, P., North, K. & Birney, E., Nov 10 2021, In: Cell Genomics. 1, 2, 100029.

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

    Open Access

  • Orthopaedic Manifestations of Inborn Errors of Metabolism

    Prasad, N., Hamosh, A. & Sponseller, P., Jul 14 2021, In: JBJS reviews. 9, 7, 20.00245.

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

  • 2020

    Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

    Azzariti, D. R. & Hamosh, A., Aug 31 2020, In: Annual Review of Genomics and Human Genetics. 21, p. 305-326 22 p.

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

    Open Access
    4 Scopus citations
  • 2019

    Insights into genetics, human biology and disease gleaned from family based genomic studies

    Centers for Mendelian Genomics, Apr 1 2019, In: Genetics in Medicine. 21, 4, p. 798-812 15 p.

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

    Open Access
    52 Scopus citations
  • 2015

    The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., Coban Akdemir, Z. H., Doheny, K., Scott, A. F., Avramopoulos, D., Chakravarti, A., Hoover-Fong, J., Mathews, D., Witmer, P. D., Ling, H., Hetrick, K., & 22 othersWatkins, L., Patterson, K. E., Reinier, F., Blue, E., Muzny, D., Kircher, M., Bilguvar, K., López-Giráldez, F., Sutton, V. R., Tabor, H. K., Leal, S. M., Gunel, M., Mane, S., Gibbs, R. A., Boerwinkle, E., Hamosh, A., Shendure, J., Lupski, J. R., Lifton, R. P., Valle, D., Nickerson, D. A. & Bamshad, M. J., Aug 6 2015, In: American journal of human genetics. 97, 2, p. 199-215 17 p., 1908.

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

    Open Access
    334 Scopus citations
  • 2009

    Planning the human variome project: The Spain report

    Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Aqeel, A. I. A., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., Bapat, B., Bernstein, I. T., Bhak, J., Bleoo, S. L., Blöcer, H., Brenner, S. E., Burn, J., Bustamante, M., Calzone, R., Cambon-Thomsen, A., & 82 othersCargill, M., Carrera, P., Cavedon, L., Cho, Y. S., Chung, Y. J., Claustres, M., Cutting, G., Dalgleish, R., Dunnen, J. T. D., Díaz, C., Dobrowolski, S., Santos, M. R. N. D., Ekong, R., Flanagan, S. B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M. V., Greenblatt, M. S., Hamosh, A., Hancock, J. M., Hardison, R., Harrison, T. M., Hoffmann, R., Horaitis, R., Howard, H. J., Barash, C. I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y. S., Lee, J. Y., Gil-da-Silva-Lopes, V. L., Macrae, F. A., Maglott, D., Marafie, M. J., Marsh, S. G. E., Matsubara, Y., Messiaen, L. M., Möslein, G., Netea, M. G., Norton, M. L., Oefner, P. J., Oetting, W. S., O'Leary, J. C., De Ramirez, A. M. O., Paalman, M. H., Parboosingh, J., Patrinos, G. P., Perozzi, G., R.Phillips, I., Povey, S., Prasad, S., Qi, M., Quin, D. J., Ramesar, R. S., Richards, C. S., Savige, J., Scheible, D. G., Scott, R. J., Seminara, D., Shephard, E. A., Sijmons, R. H., Smith, T. D., Sobrido, M. J., Tanaka, T., Tavtigian, S. V., Taylor, G. R., Teague, J., Töpel, T., Ullman-Cullere, M., Utsunomiya, J., Van Kranen, H. J., Vihinen, M., Webb, E., Weber, T. K., Yeager, M., Yeom, Y. I., Yim, S. H. & Yoo, H. S., Apr 2009, In: Human mutation. 30, 4, p. 496-510 15 p.

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

    Open Access
    39 Scopus citations
  • 2003

    The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia

    Al-Hassnan, Z. N., Boyadijev, S. A., Praphanphoj, V., Hamosh, A., Braverman, N. E., Thomas, G. H. & Geraghty, M. T., 2003, In: Journal of Inherited Metabolic Disease. 26, 1, p. 89-91 3 p.

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

    14 Scopus citations