Search Results - Rath, A.

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. by Walker, C., Mahede, T., Davis, G., Miller, L., Girschik, J., Brameld, Kate, Sun, W., Rath, A., Aymé, S., Zubrick, S., Baynam, G., Molster, C., Dawkins, H., Weeramanthri, T.

Get full text

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective by Austin, C., Cutillo, C., Lau, L., Jonker, A., Rath, A., Julkowska, D., Thomson, D., Terry, S., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K., Baynam, Gareth, Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L., Dawkins, Hugh

Get full text

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases by Boycott, K., Rath, A., Chong, J., Hartley, T., Alkuraya, F., Baynam, Gareth, Brookes, A., Brudno, M., Carracedo, A., den Dunnen, J., Dyke, S., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S., Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M., Kaufmann, P., Knoppers, B., Krischer, J., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A., Rehm, H., Robinson, P., Sham, P., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M., Zhang, F., Brunner, H., Bamshad, M., Lochmüller, H.

Get full text

Improved diagnosis and care for rare diseases through implementation of precision public health framework by Baynam, Gareth, Bowman, F., Lister, K., Walker, C., Pachter, N., Goldblatt, J., Boycott, K., Gahl, W., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, Fiona, Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P., Haendel, M., Brudno, M., Mattick, J., Dinger, M., Roscioli, T., Cowley, M., Olry, A., Hanauer, M., Alkuraya, F., Taruscio, D., Posada De La Paz, M., Lochmüller, H., Bushby, K., Thompson, R., Hedley, V., Lasko, P., Mina, K., Beilby, J., Tifft, C., Davis, M., Laing, N., Julkowska, D., Le Cam, Y., Terry, S., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S., Austin, C., Draghia-Akli, R., Weeramanthri, Tarun, Molster, C., Dawkins, Hugh

Get full text

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources by Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J.O.B., Danis, D., Gourdine, J.P., Gargano, M., Harris, N.L., Matentzoglu, N., McMurry, J.A., Osumi-Sutherland, D., Cipriani, V., Balhoff, J.P., Conlin, T., Blau, H., Baynam, G., Palmer, Richard, Gratian, D., Dawkins, H., Segal, M., Jansen, A.C., Muaz, A., Chang, W.H., Bergerson, J., Laulederkind, S.J.F., Yüksel, Z., Beltran, S., Freeman, A.F., Sergouniotis, P.I., Durkin, D., Storm, A.L., Hanauer, M., Brudno, M., Bello, S.M., Sincan, M., Rageth, K., Wheeler, M.T., Oegema, R., Lourghi, H., Della Rocca, M.G., Thompson, R., Castellanos, F., Priest, J., Cunningham-Rundles, C., Hegde, A., Lovering, R.C., Hajek, C., Olry, A., Notarangelo, L., Similuk, M., Zhang, X.A., Gómez-Andrés, D., Lochmüller, H., Dollfus, H., Rosenzweig, S., Marwaha, S., Rath, A., Sullivan, K., Smith, C., Milner, J.D., Leroux, D., Boerkoel, C.F., Klion, A., Carter, M.C., Groza, T., Smedley, D., Haendel, M.A., Mungall, C., Robinson, P.N.

Get full text