Incidental inequity

di Nowak, Kristen J., Bauskis, Alicia, Dawkins, Hugh J., Baynam, Gareth
Pubblicato in Eur J Hum Genet (2018)

Development of PCR Assays for Species- and Type-Specific Identification of Pasteurella multocida Isolates

di Townsend, Kirsty M., Frost, Alan J., Lee, Chiang W., Papadimitriou, John M., Dawkins, Hugh J. S.
Pubblicazione 1998

Editorial: Precision Public Health

di Weeramanthri, Tarun Stephen, Dawkins, Hugh J. S., Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard
Pubblicato in Front Public Health (2018)

Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia

di Metternick-Jones, Selina Carolyne, Lister, Karla Jane, Dawkins, Hugh J. S., White, Craig Anthony, Weeramanthri, Tarun Stephen
Pubblicato in Front Public Health (2015)

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

di Molster, Caron M., Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus John, Straub, Volker, Dawkins, Hugh J. S., Laing, Nigel
Pubblicato in Front Public Health (2017)

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future

di Molster, Caron M., Bowman, Faye L., Bilkey, Gemma A., Cho, Angela S., Burns, Belinda L., Nowak, Kristen J., Dawkins, Hugh J. S.
Pubblicato in Front Public Health (2018)

International Charter of principles for sharing bio-specimens and data

di Mascalzoni, Deborah, Dove, Edward S, Rubinstein, Yaffa, Dawkins, Hugh J S, Kole, Anna, McCormack, Pauline, Woods, Simon, Riess, Olaf, Schaefer, Franz, Lochmüller, Hanns, Knoppers, Bartha M, Hansson, Mats
Pubblicato in Eur J Hum Genet (2015)

Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus

di Burns, Belinda L., Bilkey, Gemma A., Coles, Emily P., Bowman, Faye L., Beilby, John P., Pachter, Nicholas S., Baynam, Gareth, Dawkins, Hugh J. S., Weeramanthri, Tarun S., Nowak, Kristen J.
Pubblicato in Front Public Health (2019)

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

di Walker, Caroline E., Mahede, Trinity, Davis, Geoff, Miller, Laura J., Girschik, Jennifer, Brameld, Kate, Sun, Wenxing, Rath, Ana, Aymé, Ségolène, Zubrick, Stephen R., Baynam, Gareth S., Molster, Caron, Dawkins, Hugh J.S., Weeramanthri, Tarun S.
Pubblicato in Genet Med (2017)

3-Dimensional Facial Analysis—Facing Precision Public Health

di Baynam, Gareth, Bauskis, Alicia, Pachter, Nicholas, Schofield, Lyn, Verhoef, Hedwig, Palmer, Richard L., Kung, Stefanie, Helmholz, Petra, Ridout, Michael, Walker, Caroline E., Hawkins, Anne, Goldblatt, Jack, Weeramanthri, Tarun S., Dawkins, Hugh J. S., Molster, Caron M.
Pubblicato in Front Public Health (2017)

Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

di Dawkins, Hugh J.S., Draghia‐Akli, Ruxandra, Lasko, Paul, Lau, Lilian P.L., Jonker, Anneliene H., Cutillo, Christine M., Rath, Ana, Boycott, Kym M., Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Le Cam, Yann, Hivert, Virginie, Austin, Christopher P.
Pubblicato in Clin Transl Sci (2017)

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

di Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., de Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.
Pubblicato in Clin Transl Sci (2017)

A flexible computational pipeline for research analyses of unsolved clinical exome cases

di Lassmann, Timo, Francis, Richard W., Weeks, Alexia, Tang, Dave, Jamieson, Sarra E., Broley, Stephanie, Dawkins, Hugh J. S., Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borri, Cathy, McKenzie, Fiona, Murphy, Lesley, Pachter, Nicholas, Pathak, Gargi, Poulton, Cathryn, Samanek, Amanda, Skoss, Rachel, Slee, Jennie, Townshend, Sharron, Ward, Michelle, Baynam, Gareth S., Blackwell, Jenefer M.
Pubblicato in NPJ Genom Med (2020)

Plain-language medical vocabulary for precision diagnosis

di Vasilevsky, Nicole A., Foster, Erin D., Engelstad, Mark E., Carmody, Leigh, Might, Matt, Chambers, Chip, Dawkins, Hugh J. S., Lewis, Janine, Della Rocca, Maria G., Snyder, Michelle, Boerkoel, Cornelius F., Rath, Ana, Terry, Sharon F., Kent, Alastair, Searle, Beverly, Baynam, Gareth, Jones, Erik, Gavin, Pam, Bamshad, Michael, Chong, Jessica, Groza, Tudor, Adams, David, Resnick, Adam C., Heath, Allison P., Mungall, Chris, Holm, Ingrid A., Rageth, Kayli, Brownstein, Catherine A., Shefchek, Kent, McMurry, Julie A., Robinson, Peter N., Köhler, Sebastian, Haendel, Melissa A.
Pubblicato in Nat Genet (2018)

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

di Easteal, Simon, Arkell, Ruth M., Balboa, Renzo F., Bellingham, Shayne A., Brown, Alex D., Calma, Tom, Cook, Matthew C., Davis, Megan, Dawkins, Hugh J.S., Dinger, Marcel E., Dobbie, Michael S., Farlow, Ashley, Gwynne, Kylie G., Hermes, Azure, Hoy, Wendy E., Jenkins, Misty R., Jiang, Simon H., Kaplan, Warren, Leslie, Stephen, Llamas, Bastien, Mann, Graham J., McMorran, Brendan J., McWhirter, Rebekah E., Meldrum, Cliff J., Nagaraj, Shivashankar H., Newman, Saul J., Nunn, Jack S., Ormond-Parker, Lyndon, Orr, Neil J., Paliwal, Devashi, Patel, Hardip R., Pearson, Glenn, Pratt, Greg R., Rambaldini, Boe, Russell, Lynette W., Savarirayan, Ravi, Silcocks, Matthew, Skinner, John C., Souilmi, Yassine, Vinuesa, Carola G., Baynam, Gareth
Pubblicato in Am J Hum Genet (2020)

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

di Nellåker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P.J., Boulanger, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J.S., deVries, Bert B.A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen V., FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerová, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F Lucy, Reijnders, Margot R.F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C.G., Schofield, Lyn, Sutton, Vernon R., Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.
Pubblicato in Front Genet (2019)

The Human Phenotype Ontology in 2017

di Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J.S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B.A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, F. Laulederkind, Stanley J., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W.M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O.B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N.
Pubblicato in Nucleic Acids Res (2017)