Hugh Dawkins

Hugh Dawkins

UNVERIFIED PROFILE

Are you Hugh Dawkins?   Register this Author

Register author
Hugh Dawkins

Hugh Dawkins

Publications by authors named "Hugh Dawkins"

Are you Hugh Dawkins?   Register this Author

57Publications

1817Reads

32Profile Views

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

Front Public Health 2019 11;7:41. Epub 2019 Mar 11.

Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2019.00041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421399PMC
March 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

View Article

Download full-text PDF

Source
https://academic.oup.com/nar/advance-article/doi/10.1093/nar
Publisher Site
http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Silver Russel syndrome in an aboriginal patient from Australia.

Am J Med Genet A 2018 12 27;176(12):2561-2563. Epub 2018 Aug 27.

Genetic Services of Western Australia, Subiaco, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40502DOI Listing
December 2018

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

Front Public Health 2018 4;6:247. Epub 2018 Sep 4.

Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2018.00247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131666PMC
September 2018

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Adv Exp Med Biol 2017 ;1031:511-520

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-319-67144-4_27DOI Listing
June 2018

Incidental inequity.

Eur J Hum Genet 2018 05 15;26(5):616-617. Epub 2018 Feb 15.

Department of Health, Office of Population Health Genomics, Public and Aboriginal Health Division, Government of Western Australia, East Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0101-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945631PMC
May 2018

Editorial: Precision Public Health.

Front Public Health 2018 30;6:121. Epub 2018 Apr 30.

Curtin University, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2018.00121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937027PMC
April 2018

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

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cts.12501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759730PMC
January 2018

225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.

Neuromuscul Disord 2017 08 12;27(8):782-790. Epub 2017 Apr 12.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.04.004DOI Listing
August 2017

Medical research: Next decade's goals for rare diseases.

Nature 2017 08;548(7666):158

Office of Population Health Genomics, Government of Western Australia, Perth, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/548158cDOI Listing
August 2017

A Web-Based Registry for Familial Hypercholesterolaemia.

Heart Lung Circ 2017 Jun 30;26(6):635-639. Epub 2016 Nov 30.

Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.hlc.2016.10.019DOI Listing
June 2017

3-Dimensional Facial Analysis-Facing Precision Public Health.

Front Public Health 2017 10;5:31. Epub 2017 Apr 10.

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2017.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385440PMC
April 2017

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Eur J Hum Genet 2017 02 26;25(2):162-165. Epub 2016 Oct 26.

Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255942PMC
February 2017

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

Front Public Health 2017 24;5:25. Epub 2017 Feb 24.

Centre for Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2017.00025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323409PMC
February 2017

The risk of re-identification versus the need to identify individuals in rare disease research.

Eur J Hum Genet 2016 11 25;24(11):1553-1558. Epub 2016 May 25.

Policy Ethics and Life Sciences Research Centre, Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2016.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110051PMC
November 2016

Survey of healthcare experiences of Australian adults living with rare diseases.

Orphanet J Rare Dis 2016 Mar 24;11:30. Epub 2016 Mar 24.

Office of Population Health Genomics, Department of Health, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-016-0409-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806449PMC
March 2016

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

Front Public Health 2015 10;3:214. Epub 2015 Sep 10.

Public Health Division, Department of Health, Government of Western Australia , Perth, WA , Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fpubh.2015.00214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564656PMC
October 2015

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

Am J Med Genet A 2015 Jul 6;167(7):1659-67. Epub 2015 Apr 6.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37070DOI Listing
July 2015

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
Web Search
http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
Web Search
http://link.springer.com/10.1007/s00415-013-7154-1
Publisher Site
http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

Correction: Dispelling myths about rare disease registry system development.

Source Code Biol Med 2014 Jan 31;9(1). Epub 2014 Jan 31.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1751-0473-9-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917533PMC
January 2014

Dispelling myths about rare disease registry system development.

Source Code Biol Med 2013 Oct 16;8(1):21. Epub 2013 Oct 16.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1751-0473-8-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015362PMC
October 2013

Informing public health policy through deliberative public engagement: perceived impact on participants and citizen-government relations.

Genet Test Mol Biomarkers 2013 Sep 17;17(9):713-8. Epub 2013 Jul 17.

Department of Health, Office of Population Health Genomics, Perth, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2013.0044DOI Listing
September 2013

Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis.

Twin Res Hum Genet 2013 Aug;16(4):840-4

School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/thg.2013.49DOI Listing
August 2013

Role of international registries in enhancing the care of familial hypercholesterolaemia.

Int J Evid Based Healthc 2013 Jun;11(2):134-9

Office of Population Health Genomics, Public Health and Clinical Services Division, Western Australian Department of Health, Perth, WA 6004, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1744-1609.12023DOI Listing
June 2013

Rare diseases and now rare data?

Nat Rev Genet 2013 Jun;14(6):372

EURAC research, Center for Biomedicine, Bioethics, ELSI, Bolzano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrg3494DOI Listing
June 2013

The facial evolution: looking backward and moving forward.

Hum Mutat 2013 Jan 2;34(1):14-22. Epub 2012 Nov 2.

Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22219DOI Listing
January 2013

The New Zealand Neuromuscular Disease Registry.

J Clin Neurosci 2012 Dec 19;19(12):1749-50. Epub 2012 Sep 19.

Neurology Department, Auckland City Hospital, Auckland Mail Centre, Auckland, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jocn.2012.04.008DOI Listing
December 2012

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

Hum Mutat 2012 Oct 2;33(10):E2356-66. Epub 2012 Jul 2.

Centre for Comparative Genomics, Murdoch University, Perth, WA 6150, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22154DOI Listing
October 2012

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

Orphanet J Rare Dis 2012 Aug 10;7:50. Epub 2012 Aug 10.

Office of Population Health Genomics, Department of Health, PO Box 8172, Stirling Street, Perth, 6849, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-7-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488492PMC
August 2012

An Australian approach to the policy translation of deliberated citizen perspectives on biobanking.

Public Health Genomics 2012 14;15(2):82-91. Epub 2011 Dec 14.

Office of Population Health Genomics, Department of Health, Curtin University of Technology, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000334104DOI Listing
June 2012

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

Prostate 2004 May;59(3):252-9

Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pros.20002DOI Listing
May 2004

Human gene patents: the possible impacts on genetic services healthcare.

Med J Aust 2003 Aug;179(4):203

Genetic Services of Western Australia, King Edward Memorial Hospital for Women, Subiaco, WA, Australia.

View Article

Download full-text PDF

Source
August 2003

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

Prostate 2002 Jan;50(1):54-63

Urological Research Centre, Department of Surgery, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pros.10032DOI Listing
January 2002