Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges von 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

Volltext

Editorial: Precision Public Health von Weeramanthri, Tarun Stephen, Dawkins, Hugh J S, Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard

Volltext

Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration von 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

Volltext

Role of international registries in enhancing the care of familial hypercholesterolaemia von Hammond, Emma, Watts, Gerald F, Rubinstein, Yaffa, Farid, Waleed, Livingston, Michael, Knowles, Joshua W, Lochmüller, Hanns, Bellgard, Matthew, Dawkins, Hugh JS

Volltext

Plain-language medical vocabulary for precision diagnosis von 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.

Volltext

The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future von Molster, Caron M, Bowman, Faye L, Bilkey, Gemma A, Cho, Angela S, Burns, Belinda L, Nowak, Kristen J, Dawkins, Hugh J S

Volltext

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

Volltext

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments von Molster, Caron M, Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus John, Straub, Volker, Dawkins, Hugh J S, Laing, Nigel

Volltext

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

Volltext

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

Volltext

International Charter of principles for sharing bio-specimens and data von 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

Volltext

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

Volltext

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

Volltext

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact von 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

Volltext

Awakening Australia to Rare Diseases: symposium report and preliminary outcomes von Dawkins, Hugh J S, Molster, Caron M, Youngs, Leanne M, O'Leary, Peter C

Volltext

Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits von Mahede, Trinity, Davis, Geoff, Rutkay, April, Baxendale, Sarah, Sun, Wenxing, Dawkins, Hugh J S, Molster, Caron, Graham, Caroline E

Volltext

3-Dimensional Facial Analysis-Facing Precision Public Health von 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

Volltext

Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia von Metternick-Jones, Selina Carolyne, Lister, Karla Jane, Dawkins, Hugh J S, White, Craig Anthony, Weeramanthri, Tarun Stephen

Volltext

A Web-Based Registry for Familial Hypercholesterolaemia von Napier, Kathryn R, Pang, Jing, Lamont, Leanne, Walker, Caroline E, Dawkins, Hugh JS, Hunter, Adam A, Bockxmeer, Frank M van, Watts, Gerald F, Bellgard, Matthew I

Volltext

Next decade's goals for rare diseases von Austin, Christopher P., Dawkins, Hugh J. S.

Volltext