Ada Hamosh

Professor

1990 …2021

Research output per year

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  • 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 journalReview articlepeer-review

  • 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 journalReview articlepeer-review

  • 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 others, Watkins, 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 journalReview articlepeer-review

  • 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 others, Cargill, 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 journalReview articlepeer-review

  • 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 journalReview articlepeer-review