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Publications: Dawkins, Hugh

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Number of items: 24.

Journal Article

Nellåker, C., Alkuraya, F.S., Baynam, G., Bernier, R.A., Bernier, F.P.J., Boulanger, V., Brudno, M., Brunner, H.G., Clayton-Smith, J., Cogné, B., Dawkins, H.J.S., deVries, B.B.A., Douzgou, S., Dudding-Byth, T., Eichler, E.E., Ferlaino, M., Fieggen, K., Firth, H.V., FitzPatrick, D.R., Gration, D., Groza, T., Haendel, M., Hallowell, N., Hamosh, A., Hehir-Kwa, J., Hitz, M-P, Hughes, M., Kini, U., Kleefstra, T., Kooy, R.F., Krawitz, P., Küry, S., Lees, M., Lyon, G.J., Lyonnet, S., Marcadier, J.L., Meyn, S., Moslerová, V., Politei, J.M., Poulton, C.C., Raymond, F.L., Reijnders, M.R.F., Robinson, P.N., Romano, C., Rose, C.M., Sainsbury, D.C.G., Schofield, L., Sutton, V.R., Turnovec, M., Van Dijck, A., Van Esch, H. and Wilkie, A.O.M. (2019) Enabling global clinical collaborations on identifiable patient data: The Minerva Initiative. Frontiers in Genetics, 10 .

Bilkey, G.A., Burns, B.L., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Nowak, K.J. and Weeramanthri, T.S. (2019) Genomic testing for human health and disease across the life cycle: Applications and ethical, legal, and social challenges. Frontiers in Public Health, 7 .

Burns, B.L., Bilkey, G.A., Coles, E.P., Bowman, F.L., Beilby, J.P., Pachter, N.S., Baynam, G., Dawkins, H.J.S., Weeramanthri, T.S. and Nowak, K.J. (2019) Healthcare system priorities for successful integration of genomics: An Australian focus. Frontiers in Public Health, 7 .

Weeramanthri, T.S., Dawkins, H.J.S., Baynam, G., Bellgard, M., Gudes, O. and Semmens, J.B. (2018) Editorial: Precision Public Health. Frontiers in Public Health, 6 .

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, R., 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. and Robinson, P.N. (2018) Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Research, 47 (D1). D1018-D1027.

Nowak, K.J., Bauskis, A., Dawkins, H.J. and Baynam, G. (2018) Incidental inequity. European Journal of Human Genetics, 26 . pp. 616-617.

Vasilevsky, N.A., Foster, E.D., Engelstad, M.E., Carmody, L., Might, M., Chambers, C., Dawkins, H.J.S., Lewis, J., Della Rocca, M.G., Snyder, M., Boerkoel, C.F., Rath, A., Terry, S.F., Kent, A., Searle, B., Baynam, G., Jones, E., Gavin, P., Bamshad, M., Chong, J., Groza, T., Adams, D., Resnick, A.C., Heath, A.P., Mungall, C., Holm, I.A., Kageth, K., Brownstein, C.A., Shefchek, K., McMurry, J.A., Robinson, P.N., Köhler, S. and Haendel, M.A. (2018) Plain-language medical vocabulary for precision diagnosis. Nature Genetics, 50 . pp. 474-476.

Molster, C.M., Bowman, F.L., Bilkey, G.A., Cho, A.S., Burns, B.L., Nowak, K.J. and Dawkins, H.J.S. (2018) The evolution of public health genomics: Exploring its past, present, and future. Frontiers in Public Health, 6 .

Baynam, G., Bauskis, A., Pachter, N., Schofield, L., Verhoef, H., Palmer, R.L., Kung, S., Helmholz, P., Ridout, M., Walker, C.E., Hawkins, A., Goldblatt, J., Weeramanthri, T.S., Dawkins, H.J.S. and Molster, C.M. (2017) 3-Dimensional Facial Analysis—Facing Precision Public Health. Frontiers in Public Health, 5 .

Koeks, Z., Bladen, C.L., Salgado, D., van Zwet, E., Pogoryelova, O., McMacken, G., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Bellgard, M.I., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Herczegfalvi, A., Viswanathan, V., Bayat, F., Buccella, F., Ferlini, A., Kimura, E., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Klein, A., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Oznur, T., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Kirschner, J., Flanigan, K.M., Straub, V., Bushby, K., Beroud, C., Verschuuren, J.J. and Lochmüller, H. (2017) Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of Neuromuscular Diseases, 4 (4). pp. 293-306.

Bellgard, M.I., Walker, C.E., Napier, K.R., Lamont, L., Hunter, A.A., Render, L., Radochonski, M., Pang, J., Pedrotti, A., Sullivan, D.R., Kostner, K., Bishop, W., George, P.M., O’Brien, R.C., Clifton, P.M., Bockxmeer, F.M.V., Nicholls, S.J., Hamilton-Craig, I., Dawkins, H.J.S. and Watts, G.F. (2017) Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration. Journal of Atherosclerosis and Thrombosis, 24 (10). pp. 1075-1084.

Austin, C.P., Cutillo, C.M., Lau, L.P.L., Jonker, A.H., Rath, A., Julkowska, D., Thomson, D., Terry, S.F., de Montleau, B., Ardigò, D., Hivert, V., Boycott, K.M., Baynam, G., Kaufmann, P., Taruscio, D., Lochmüller, H., Suematsu, M., Incerti, C., Draghia-Akli, R., Norstedt, I., Wang, L. and Dawkins, H.J.S. (2017) Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. Clinical and Translational Science, 11 (1). pp. 21-27.

Molster, C.M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A.J., Straub, V., Dawkins, H.J.S. and Laing, N. (2017) Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Frontiers in Public Health, 5 . Article 25.

Dawkins, H.J.S., Draghia-Akli, R., Lasko, P., Lau, L.P.L., Jonker, A.H., Cutillo, C.M., Rath, A., Boycott, K.M., Baynam, G., Lochmüller, H., Kaufmann, P., Le Cam, Y., Hivert, V. and Austin, C.P. (2017) Progress in rare diseases research 2010-2016: An IRDiRC perspective. Clinical and Translational Science, 11 (1). pp. 11-20.

Walker, C.E., Mahede, T., Davis, G., Miller, L.J., Girschik, J., Brameld, K., Sun, W., Rathod, A., Ayme, S., Zubrick, S.R., Baynam, G.S., Molster, C., Dawkins, H.J.S. and Weeramanthri, T.S. (2017) The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort. Genetics in Medicine, 19 (5). pp. 546-552.

Molster, C., Urwin, D., Di Pietro, L., Fookes, M., Petrie, D., van der Laan, S. and Dawkins, H. (2016) Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet Journal of Rare Diseases, 11 (1).

Napier, K.R., Pang, J., Lamont, L., Walker, C.E., Dawkins, H.J.S., Hunter, A.A., van Bockxmeer, F.M., Watts, G.F. and Bellgard, M.I. (2016) A Web-Based registry for familial hypercholesterolaemia. Heart, Lung and Circulation, 26 (6). pp. 635-639.

Hansson, M.G., Lochmüller, H., Riess, O., Schaefer, F., Orth, M., Rubinstein, Y., Molster, C., Dawkins, H., Taruscio, D., Posada, M. and Woods, S. (2016) The risk of re-identification versus the need to identify individuals in rare disease research. European Journal of Human Genetics, 24 (11). pp. 1553-1558.

Baynam, G., Pachter, N., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Graham, C., Mina, K., Beilby, J., Davis, M., Weeramanthri, T., Dawkins, H. and Goldblatt, J. (2015) AB002. The rare and undiagnosed diseases diagnostic service. Annals of Translational Medicine, 3 (Supp. 2).

Mascalzoni, D., Dove, E.S., Rubinstein, Y., Dawkins, H.J.S., Kole, A., McCormack, P., Woods, S., Riess, O., Schaefer, F., Lochmüller, H., Knoppers, B.M. and Hansson, M. (2015) International charter of principles for sharing bio-specimens and data. European Journal of Human Genetics, 23 (6). pp. 721-728.

Mahede, T., Davis, G., Rutkay, A., Baxendale, S., Sun, W, Dawkins, H.J.S., Molster, C. and Graham, C.E. (2015) Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: Effects on health service use and lifestyle benefits. Orphanet Journal of Rare Diseases, 10 (1).

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. and Goldblatt, J. (2015) A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. American Journal of Medical Genetics: Part A, 167 (7). pp. 1659-1667.

Book Chapter

Baynam, G., Bowman, F., Lister, K., Walker, C.E., Pachter, N., Goldblatt, J., Boycott, K.M., Gahl, W.A., Kosaki, K., Adachi, T., Ishii, K., Mahede, T., McKenzie, F., Townshend, S., Slee, J., Kiraly-Borri, C., Vasudevan, A., Hawkins, A., Broley, S., Schofield, L., Verhoef, H., Groza, T., Zankl, A., Robinson, P.N., Haendel, M., Brudno, M., Mattick, J.S., Dinger, M.E., Roscioli, T., Cowley, M.J., Olry, A., Hanauer, M., Alkuraya, F.S., 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.G., Julkowska, D., Le Cam, Y., Terry, S.F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S.C., Austin, C.P., Draghia-Akli, R., Weeramanthri, T.S., Molster, C. and Dawkins, H.J.S. (2017) Improved diagnosis and care for rare diseases through implementation of precision public health framework. In: de la Paz, M.P., Taruscio, D. and Groft, S.C., (eds.) Rare Diseases Epidemiology: Update and Overview. Springer, pp. 55-94.

Baynam, G., Molster, C., Bauskis, A., Kowal, E., Savarirayan, R., Kelaher, M., Easteal, S., Massey, L., Garvey, G., Goldblatt, J., Pachter, N., Weeramanthri, T.S. and Dawkins, H.J.S. (2017) Indigenous genetics and rare diseases: Harmony, diversity and equity. In: de la Paz, M.P., Taruscio, D. and Groft, S.C., (eds.) Rare Diseases Epidemiology: Update and Overview. Springer, pp. 511-520.

This list was generated on Mon Nov 18 05:56:05 2019 UTC.