The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service
Baynam, Gareth, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharon, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Walker, Caroline E, Molster, Caron, Blackwell, Jenefer M, Jamieson, Sarra, Tang, Dave, Lassmann, Timo, Mina, Kym, Beilby, John, Davis, Mark, Laing, Nigel, Murphy, Lesley, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Published in Orphanet journal of rare diseases (11.06.2016)
Published in Orphanet journal of rare diseases (11.06.2016)
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 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
Initiating an undiagnosed diseases program in the Western Australian public health system
Baynam, Gareth, Broley, Stephanie, Bauskis, Alicia, Pachter, Nicholas, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Schofield, Lyn, Helmholz, Petra, Palmer, Richard, Kung, Stefanie, Walker, Caroline E, Molster, Caron, Lewis, Barry, Mina, Kym, Beilby, John, Pathak, Gargi, Poulton, Cathryn, Groza, Tudor, Zankl, Andreas, Roscioli, Tony, Dinger, Marcel E, Mattick, John S, Gahl, William, Groft, Stephen, Tifft, Cynthia, Taruscio, Domenica, Lasko, Paul, Kosaki, Kenjiro, Wilhelm, Helene, Melegh, Bela, Carapetis, Jonathan, Jana, Sayanta, Chaney, Gervase, Johns, Allison, Owen, Peter Wynn, Daly, Frank, Weeramanthri, Tarun, Dawkins, Hugh, Goldblatt, Jack
Published in Orphanet journal of rare diseases (03.05.2017)
Published in Orphanet journal of rare diseases (03.05.2017)
Get full text
Journal Article
A Web-Based Registry for Familial Hypercholesterolaemia
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
Published in Heart, lung & circulation (01.06.2017)
Published in Heart, lung & circulation (01.06.2017)
Get full text
Journal Article
3-Dimensional Facial Analysis-Facing Precision Public Health
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
Published in Frontiers in public health (10.04.2017)
Published in Frontiers in public health (10.04.2017)
Get full text
Journal Article
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy
NEWBOLD, Richard J, DEERY, Evelyne C, WALKER, Caroline E, WILKIE, Susan E, SRINIVASAN, Narayanaswamy, HUNT, David M, BHATTACHARYA, Shomi S, WARREN, Martin J
Published in Human molecular genetics (2001)
Published in Human molecular genetics (2001)
Get full text
Journal Article
Regulation of EGF-receptor expression by EGF and TGFα in epidermoid cancer cells is cell type-specific
McCulloch, Ross K., Walker, Caroline E, Chakera, Aron, Jazayeri, Jalal, Leedman, Peter J.
Published in The international journal of biochemistry & cell biology (01.11.1998)
Published in The international journal of biochemistry & cell biology (01.11.1998)
Get full text
Journal Article
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Baynam, Gareth, Bowman, Faye, Lister, Karla, Walker, Caroline E., Pachter, Nicholas, Goldblatt, Jack, Boycott, Kym M., Gahl, William A., Kosaki, Kenjiro, Adachi, Takeya, Ishii, Ken, Mahede, Trinity, McKenzie, Fiona, Townshend, Sharron, Slee, Jennie, Kiraly-Borri, Cathy, Vasudevan, Anand, Hawkins, Anne, Broley, Stephanie, Schofield, Lyn, Verhoef, Hedwig, Groza, Tudor, Zankl, Andreas, Robinson, Peter N., Haendel, Melissa, Brudno, Michael, Mattick, John S., Dinger, Marcel E., Roscioli, Tony, Cowley, Mark J., Olry, Annie, Hanauer, Marc, Alkuraya, Fowzan S., Taruscio, Domenica, Posada de la Paz, Manuel, Lochmüller, Hanns, Bushby, Kate, Thompson, Rachel, Hedley, Victoria, Lasko, Paul, Mina, Kym, Beilby, John, Tifft, Cynthia, Davis, Mark, Laing, Nigel G., Julkowska, Daria, Le Cam, Yann, Terry, Sharon F., Kaufmann, Petra, Eerola, Iiro, Norstedt, Irene, Rath, Ana, Suematsu, Makoto, Groft, Stephen C., Austin, Christopher P., Draghia-Akli, Ruxandra, Weeramanthri, Tarun S., Molster, Caron, Dawkins, Hugh J. S.
Published in Advances in experimental medicine and biology (2017)
Published in Advances in experimental medicine and biology (2017)
Get full text
Book Chapter
Journal Article
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy
WILKIE, Susan E, NEWBOLD, Richard J, DEERY, Evelyne, WALKER, Caroline E, STINTON, Inez, RAMAMURTHY, Visvanathan, HURLEY, James B, BHATTACHARYA, Shomi S, WARREN, Martin J, HUNT, David M
Published in Human molecular genetics (12.12.2000)
Published in Human molecular genetics (12.12.2000)
Get full text
Journal Article