The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
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.
Published in Genetics in medicine (01.05.2017)
Published in Genetics in medicine (01.05.2017)
Get full text
Journal Article
Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective
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, Cam, Yann, Hivert, Virginie, Austin, Christopher P.
Published in Clinical and translational science (01.01.2018)
Published in Clinical and translational science (01.01.2018)
Get full text
Journal Article
International Charter of principles for sharing bio-specimens and data
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
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
Get full text
Journal Article
The Human Phenotype Ontology in 2017
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
Published in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
Get full text
Journal Article
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective
Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., 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.
Published in Clinical and translational science (01.01.2018)
Published in Clinical and translational science (01.01.2018)
Get full text
Journal Article
Editorial: Precision Public Health
Weeramanthri, Tarun Stephen, Dawkins, Hugh J S, Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard
Published in Frontiers in public health (30.04.2018)
Published in Frontiers in public health (30.04.2018)
Get full text
Journal Article
Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration
Bellgard, Matthew I, Walker, Caroline E, Napier, Kathryn R, Lamont, Leanne, Hunter, Adam A, Render, Lee, Radochonski, Maciej, Pang, Jing, Pedrotti, Annette, Sullivan, David R, Kostner, Karam, Bishop, Warrick, George, Peter M, O’Brien, Richard C, Clifton, Peter M, Bockxmeer, Frank M Van, Nicholls, Stephen J, Hamilton-Craig, Ian, Dawkins, Hugh JS, Watts, Gerald F
Published in Journal of Atherosclerosis and Thrombosis (01.01.2017)
Published in Journal of Atherosclerosis and Thrombosis (01.01.2017)
Get full text
Journal Article
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
Lochmüller, Hanns, Torrent I Farnell, Josep, Le Cam, Yann, Jonker, Anneliene H, Lau, Lilian Pl, Baynam, Gareth, Kaufmann, Petra, Dawkins, Hugh Js, Lasko, Paul, Austin, Christopher P, Boycott, Kym M
Published in European journal of human genetics : EJHG (01.12.2017)
Published in European journal of human genetics : EJHG (01.12.2017)
Get full text
Journal Article
Incidental inequity
Nowak, Kristen J, Bauskis, Alicia, Dawkins, Hugh J, Baynam, Gareth
Published in European journal of human genetics : EJHG (01.05.2018)
Published in European journal of human genetics : EJHG (01.05.2018)
Get full text
Journal Article
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Thompson, Rachel, Johnston, Louise, Taruscio, Domenica, Monaco, Lucia, Béroud, Christophe, Gut, Ivo G., Hansson, Mats G., ’t Hoen, Peter-Bram A., Patrinos, George P., Dawkins, Hugh, Ensini, Monica, Zatloukal, Kurt, Koubi, David, Heslop, Emma, Paschall, Justin E., Posada, Manuel, Robinson, Peter N., Bushby, Kate, Lochmüller, Hanns
Published in Journal of general internal medicine : JGIM (01.08.2014)
Published in Journal of general internal medicine : JGIM (01.08.2014)
Get full text
Journal Article
Plain-language medical vocabulary for precision diagnosis
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.
Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
Get full text
Journal Article
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems
Tisdale, Ainslie, Cutillo, Christine M, Nathan, Ramaa, Russo, Pierantonio, Laraway, Bryan, Haendel, Melissa, Nowak, Douglas, Hasche, Cindy, Chan, Chun-Hung, Griese, Emily, Dawkins, Hugh, Shukla, Oodaye, Pearce, David A, Rutter, Joni L, Pariser, Anne R
Published in Orphanet journal of rare diseases (22.10.2021)
Published in Orphanet journal of rare diseases (22.10.2021)
Get full text
Journal Article
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people
Luke, Joanne, Dalach, Philippa, Tuer, Lindsay, Savarirayan, Ravi, Ferdinand, Angeline, McGaughran, Julie, Kowal, Emma, Massey, Libby, Garvey, Gail, Dawkins, Hugh, Jenkins, Misty, Paradies, Yin, Pearson, Glenn, Stutterd, Chloe A., Baynam, Gareth, Kelaher, Margaret
Published in Nature communications (24.08.2022)
Published in Nature communications (24.08.2022)
Get full text
Journal Article
The risk of re-identification versus the need to identify individuals in rare disease research
Hansson, Mats G, Lochmüller, Hanns, Riess, Olaf, Schaefer, Franz, Orth, Michael, Rubinstein, Yaffa, Molster, Caron, Dawkins, Hugh, Taruscio, Domenica, Posada, Manuel, Woods, Simon
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
Get full text
Journal Article
Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges
Bilkey, Gemma A, Burns, Belinda L, Coles, Emily P, Bowman, Faye L, Beilby, John P, Pachter, Nicholas S, Baynam, Gareth, J S Dawkins, Hugh, Nowak, Kristen J, Weeramanthri, Tarun S
Published in Frontiers in public health (2019)
Published in Frontiers in public health (2019)
Get full text
Journal Article
Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits
Mahede, Trinity, Davis, Geoff, Rutkay, April, Baxendale, Sarah, Sun, Wenxing, Dawkins, Hugh J S, Molster, Caron, Graham, Caroline E
Published in Orphanet journal of rare diseases (06.05.2015)
Published in Orphanet journal of rare diseases (06.05.2015)
Get full text
Journal Article
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
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
Published in American journal of human genetics (06.08.2020)
Published in American journal of human genetics (06.08.2020)
Get full text
Journal Article
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Wang, Chiuhui Mary, Whiting, Amy Heagle, Rath, Ana, Anido, Roberta, Ardigò, Diego, Baynam, Gareth, Dawkins, Hugh, Hamosh, Ada, Le Cam, Yann, Malherbe, Helen, Molster, Caron M, Monaco, Lucia, Padilla, Carmencita D, Pariser, Anne R, Robinson, Peter N, Rodwell, Charlotte, Schaefer, Franz, Weber, Stefanie, Macchia, Flaminia
Published in Orphanet journal of rare diseases (11.09.2024)
Published in Orphanet journal of rare diseases (11.09.2024)
Get full text
Journal Article