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1

Medical research: Next decade's goals for rare diseases

Austin, Christopher P., Dawkins, Hugh J. S.

Journal:

Year:

2017

Language:

english

File:

PDF, 83 KB

english, 2017

2

Progress in rare diseases research 2010-2016: an IRDiRC perspective

Dawkins, Hugh JS, Draghia-Akli, Ruxandra, Lasko, Paul, Lau, Lilian PL, Jonker, Anneliene H, Cutillo, Christine M, Rath, Ana, Boycott, Kym M, Baynam, Gareth, Lochmüller, Hanns, Kaufmann, Petra, Cam, Ya

Journal:

Clinical and Translational Science

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

3

Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes

Hugh JS Dawkins, Caron M Molster, Leanne M Youngs, Peter C O’Leary

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 119 KB

english, 2011

4

Survey of healthcare experiences of Australian adults living with rare diseases

Molster, Caron, Urwin, Debra, Di Pietro, Louisa, Fookes, Megan, Petrie, Dianne, van der Laan, Sharon, Dawkins, Hugh

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 737 KB

english, 2016

5

Luminal contents of benign and malignant prostatic glands: Correspondence to altered secretory mechanisms

Ronald J. Cohen, John E. McNeal, Sharon L. Redmond, Katie Meehan, Robert Thomas, Matthew Wilce, Hugh J.S. Dawkins

Journal:

Human Pathology

Year:

2000

Language:

english

File:

PDF, 7.85 MB

english, 2000

6

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina,

Journal:

Year:

2015

Language:

english

File:

PDF, 646 KB

english, 2015

7

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai,

Journal:

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

8

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 JS, Molster, Caron, Graham, Caroline E

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 737 KB

english, 2015

9

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Díaz-Manera, Jordi, Dogan, Celine, el Sherif, Rasha, Foss

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 251 KB

2019

10

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, M

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 380 KB

english, 2015

11

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Caron Molster, Leanne Youngs, Emma Hammond, Hugh Dawkins

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 225 KB

english, 2012

12

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Wood, Libby, Bassez, Guillaume, Bleyenheuft, Corinne, Campbell, Craig, Cossette, Louise, Jimenez-Moreno, Aura Cecilia, Dai, Yi, Dawkins, Hugh, Manera, Jorge Alberto Diaz, Dogan, Celine, el Sherif, Ras

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.49 MB

english, 2018

13

An Australian Approach to the Policy Translation of Deliberated Citizen Perspectives on Biobanking

Molster, Caron, Maxwell, Susannah, Youngs, Leanne, Potts, Ayla, Kyne, Gaenor, Hope, Fiona, Dawkins, Hugh, O’Leary, Peter

Journal:

Public Health Genomics

Year:

2012

Language:

english

File:

PDF, 167 KB

english, 2012

14

The New Zealand Neuromuscular Disease Registry

Rodrigues, Miriam, Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald, Patel, Rakesh, Dawkins, Hugh, Bellgard, Matthew, Roxburgh, Richard

Journal:

Journal of Clinical Neuroscience

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

15

Editorial: Precision Public Health

Weeramanthri, Tarun Stephen, Dawkins, Hugh J. S., Baynam, Gareth, Bellgard, Matthew, Gudes, Ori, Semmens, James Bernard

Journal:

Frontiers in Public Health

Year:

2018

Language:

english

File:

PDF, 132 KB

english, 2018

16

Identification of the glycosaminoglycan keratan sulfate in the prostatic secretory cell

Ronald J. Cohen, John W. Holland, Sharon L. Redmond, John E. McNeal, Hugh J.S. Dawkins

Journal:

Year:

2000

Language:

english

File:

PDF, 1.26 MB

english, 2000

17

Field inversion gel electrophoresis (FIGE) in vertical slabs as an improved method for large DNA separation

Dawkins, Hugh J. S., Ferrier, Debra J., Spencer, Terence L.

Journal:

Nucleic Acids Research

Year:

1987

Language:

english

File:

PDF, 828 KB

english, 1987

18

The relative prognostic significance of total cathepsin D and HER-2/neu oncogene amplification in breast cancer

Ram Seshadri, David J. Horsfall, Frank Firgaira, Kieran McCaul, Vittal Setlur, Anthony H. Chalmers, Robyn Yeo, D. Ingram, Hugh Dawkins, Roland Hahnel, South Australian Breast Cancer Study Group

Journal:

International Journal of Cancer

Year:

1994

Language:

english

File:

PDF, 536 KB

english, 1994

19

Informing Public Health Policy Through Deliberative Public Engagement: Perceived Impact on Participants and Citizen–Government Relations

Molster, Caron, Potts, Ayla, McNamara, Beverley, Youngs, Leanne, Maxwell, Susannah, Dawkins, Hugh, O'Leary, Peter

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2013

Language:

english

File:

PDF, 127 KB

english, 2013

20

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

Molster, Caron M., Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus John, Straub, Volker, Dawkins, Hugh J. S., Laing, Nigel

Journal:

Frontiers in Public Health

Year:

2017

Language:

english

File:

PDF, 232 KB

english, 2017

21

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

Molster, Caron M., Bowman, Faye L., Bilkey, Gemma A., Cho, Angela S., Burns, Belinda L., Nowak, Kristen J., Dawkins, Hugh J. S.

Journal:

Frontiers in Public Health

Year:

2018

Language:

english

File:

PDF, 460 KB

english, 2018

22

Purification of the keratan sulfate proteoglycan expressed in prostatic secretory cells and its identification as lumican

John W. Holland, Katie L. Meehan, Sharon L. Redmond, Hugh J.S. Dawkins

Journal:

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

23

Blueprint for a deliberative public forum on biobanking policy: were theoretical principles achievable in practice?

Caron Molster, Susannah Maxwell, Leanne Youngs, Gaenor Kyne, Fiona Hope, Hugh Dawkins, Peter O’Leary

Journal:

Health Expectations

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

24

The biogeographic history of the relictual Gondwanan lineage of Australian burrowing crayfish

Dawkins, Kathryn L., Furse, James M., Hughes, Jane M.

Journal:

Year:

2020

File:

PDF, 3.22 MB

2020

25

Estrogen receptor-negative epithelial cells in mouse mammary gland development and growth

Nikolajs Zeps, Jacqueline M. Bentel, John M. Papadimitriou, Mario F. D'Antuono, Hugh J.S. Dawkins

Journal:

Differentiation

Year:

1998

Language:

english

File:

PDF, 339 KB

english, 1998

26

Characterization of cytoplasmic secretory granules (PSG), in prostatic epithelium and their transformation-induced loss in dysplasia and adenocarcinoma

Ronald J Cohen, John E McNeal, Stephen G Edgar, Terry Robertson, Hugh J.S Dawkins

Journal:

Human Pathology

Year:

1998

Language:

english

File:

PDF, 19.07 MB

english, 1998

27

Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

28

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

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

29

Field alternation gel electrophoresis — status quo

Kirsty M. Townsend, Hugh J.S. Dawkins

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1993

Language:

english

File:

PDF, 1.56 MB

english, 1993

30

Role of international registries in enhancing the care of familial hypercholesterolaemia

Hammond, Emma, Watts, Gerald F, Rubinstein, Yaffa, Farid, Waleed, Livingston, Michael, Knowles, Joshua W, Lochmüller, Hanns, Bellgard, Matthew, Dawkins, Hugh JS

Journal:

International Journal of Evidence-Based Healthcare

Year:

2013

Language:

english

File:

PDF, 248 KB

english, 2013

31

Erratum to: Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2014

Language:

english

File:

PDF, 97 KB

english, 2014

32

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Baynam, Gareth, Overkov, Angela, Davis, Mark, Mina, Kym, Schofield, Lyn, Allcock, Richard, Laing, Nigel, Cook, Matthew, Dawkins, Hugh, Goldblatt, Jack

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.59 MB

english, 2015

33

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

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 878 KB

english, 2017

34

Evaluation Of The Expression Levels Of Nm23-H1 Mrna In Primary Breast Cancer, Benign Breast Disease, Axillary Lymph Nodes And Normal Breast Tissue

Goodall, Rebecca J., Dawkins, Hugh J.S., Robbins, Peter D., Hähnel, Erika, Sarna, Mohinder, Hähnel, Roland, Papadimitriou, John M., Harvey, Jenett M., Sterrett, Gregory F.

Journal:

Year:

1994

Language:

english

File:

PDF, 1.01 MB

english, 1994

35

225th ENMC International Workshop: A global FSHD Registry framework 18-20 November 2016, Heemskerk, The Netherlands

Mul, Karlien, Kinoshita, June, Dawkins, Hugh, van Engelen, Baziel, Tupler, Rossella

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 998 KB

english, 2017

36

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.

Journal:

Frontiers in Public Health

Year:

2019

Language:

english

File:

PDF, 489 KB

english, 2019

37

Human gene patents: the possible impacts on genetic services healthcare

Walpole, Ian R, Dawkins, Hugh J S, O'Leary, Peter C, Sinden, Peter D

Journal:

The Medical Journal of Australia

Year:

2003

File:

PDF, 156 KB

2003

38

Distinction between intraductal carcinoma of the prostate (IDC-P), high-grade dysplasia (PIN), and invasive prostatic adenocarcinoma, using molecular markers of cancer progression

Hugh J.S. Dawkins, Loryn N. Sellner, Gavin R. Turbett, Colin A. Thompson, Sharon L. Redmond, John E. McNeal, Ronald J. Cohen

Journal:

Year:

2000

Language:

english

File:

PDF, 264 KB

english, 2000

39

Predicting axillary lymph node metastases in breast carcinoma patients

Poh Lian Choong, Christopher J. S. deSilva, Hugh J. S. Dawkins, Gregory F. Sterrett, Peter Robbins, Jennet M. Harvey, John Papadimitriou, Yianni Attikiouzel

Journal:

Breast Cancer Research and Treatment

Year:

1996

Language:

english

File:

PDF, 996 KB

english, 1996

40

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

Journal:

Heart Lung & Circulation

Year:

2016

Language:

english

File:

PDF, 482 KB

english, 2016

41

A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry

Matthew I Bellgard, Andrew Macgregor, Fred Janon, Adam Harvey, Peter O'Leary, Adam Hunter, Hugh Dawkins

Journal:

Year:

2012

Language:

english

File:

PDF, 738 KB

english, 2012

42

New mothers' awareness of newborn screening, and their attitudes to the retention and use of screening samples for research purposes

Davey, Angela, French, Davina, Dawkins, Hugh, O'Leary, Peter

Journal:

Life Sciences Society and Policy

Year:

2005

Language:

english

File:

PDF, 189 KB

english, 2005

43

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,

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 276 KB

2020

44

Expression of stromelysin-3 and nm23 in breast carcinoma and related tissues

Erika Hähnel, Hugh Dawkins, Peter Robbins, Roland Hähnel

Journal:

International Journal of Cancer

Year:

1994

Language:

english

File:

PDF, 415 KB

english, 1994

45

Proteomic analysis of normal and malignant prostate tissue to identify novel proteins lost in cancer

Katie L. Meehan, John W. Holland, Hugh J.S. Dawkins

Journal:

Year:

2002

Language:

english

File:

PDF, 538 KB

english, 2002

46

Current trends in biobanking for rare diseases: a review

Graham, Caroline, Dawkins, Hugh, Baynam, Gareth, Lockmuller, Hanns, Bushby, Kate, Monaco, Lucia, Zatloukal, Kurt, Rubinstein, Yaffa, Mora, Marina, Knoppers, Bartha, Terry, Sharon, Hansson, Mats, Reiss

Journal:

Journal of Biorepository Science for Applied Medicine

Year:

2014

Language:

english

File:

PDF, 565 KB

english, 2014

47

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

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-Borr

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 996 KB

2020

48

PROSTATE SPECIFIC ORIGIN OF DIPEPTIDYLPEPTIDASE IV (CD-26) IN HUMAN SEMINAL PLASMA

WILSON, MICHAEL J., RUHLAND, AMY R., PRYOR, JON L., ERCOLE, CESAR, SINHA, AKHOURI A., HENSLEIGH, HUGH, KAYE, KEITH W., DAWKINS, HUGH J.S., WASSERMAN, NEIL F., REDDY, PRATAP, AHMED, KHALIL

Journal:

The Journal of Urology

Year:

1998

Language:

english

File:

PDF, 835 KB

english, 1998

49

Phenotyping: Targeting genotype's rich cousin for diagnosis

Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Bellgard, Matthew, Girdea, Marta, Brudno, Michael, Robinson, Peter, Zankl, Andreas, Groza, Tudor, Gillett, D

Journal:

Journal of Paediatrics and Child Health

Year:

2014

Language:

english

File:

PDF, 121 KB

english, 2014

50

Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA

Hoffman, E.P., Bonnemann, Carsten, Boutin, Marc, Brais, Bernard, Buccella, Filippo, Burghes, Arthur, Coffey, Christopher, Dasgupta, Nabarun, Dawkins, Hugh, De Luca, Annamaria, Dowd, Christopher, Duong

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 937 KB

english, 2017

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