Search Results - Baynam, G.S.
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Correction to Dispelling myths about rare disease registry system development [Source Code Biol Med, 8, (2013), 21] 10.1186/1751-0473-8-21, 24131574 by Bellgard, M., Beroud, C., Parkinson, K., Harris, T., Ayme, S., Baynam, G., Weeramanthri, Tarun, Dawkins, Hugh, Hunter, A.
Published 2014Get full text
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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.
Published 2016Get full text
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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance by Woodward, K., Stampalia, J., Vanyai, H., Rijhumal, H., Potts, K., Taylor, F., Peverall, J., Grumball, T., Sivamoorthy, S., Alinejad-Rokny, H., Wray, J., Whitehouse, A., Nagarajan, L., Scurlock, J., Afchani, S., Edwards, M., Murch, A., Beilby, J., Baynam, G., Kiraly-Borri, C., McKenzie, F., Heng, Julian
Published 2019Get full text
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The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service. by Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Walker, C., Molster, C., Blackwell, J., Jamieson, S., Tang, D., Lassmann, T., Mina, K., Beilby, J., Davis, M., Laing, N., Murphy, L., Weeramanthri, T., Dawkins, Hugh, Goldblatt, J.
Published 2016Get full text
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Initiating an undiagnosed diseases program in the Western Australian public health system by Baynam, G., Broley, S., Bauskis, A., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Schofield, L., Helmholz, Petra, Palmer, R., Kung, S., Walker, C., Molster, C., Lewis, B., Mina, K., Beilby, J., Pathak, G., Poulton, C., Groza, T., Zankl, A., Roscioli, T., Dinger, M., Mattick, J., Gahl, W., Groft, S., Tifft, C., Taruscio, D., Lasko, P., Kosaki, K., Wilhelm, H., Melegh, B., Carapetis, J., Jana, S., Chaney, G., Johns, A., Owen, P., Daly, F., Weeramanthri, T., Dawkins, H., Goldblatt, J.
Published 2017Get full text
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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.
Published 2019Get full text