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Author Details

Hugh Dawkins
The University of Notre Dame Australia
1979
131
34
PMIDPaper TitleJournal TitlePublished Year
369475073D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.PLOS Digit Health2023
369475073D facial analysis for rare disease diagnosis and treatment monitoring: Proof-Of-Concept plan for hereditary angioedema.PLOS Digit Health2023
36002448Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.Nat Commun2022
36002448Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.Nat Commun2022
34385669Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.Genet Med2021
34674728The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.Orphanet J Rare Dis2021
34385669Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.Genet Med2021
34674728The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.Orphanet J Rare Dis2021
32763188Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.Am J Hum Genet2020
32020066How many rare diseases are there?Nat Rev Drug Discov2020
32763188Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.Am J Hum Genet2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
32020066How many rare diseases are there?Nat Rev Drug Discov2020
33303739A flexible computational pipeline for research analyses of unsolved clinical exome cases.NPJ Genom Med2020
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
30476213Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic Acids Res2019
30915324Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.Front Public Health2019
31416449Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.Orphanet J Rare Dis2019
30844479Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.Gene2019
31416449Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.Orphanet J Rare Dis2019
30915324Healthcare System Priorities for Successful Integration of Genomics: An Australian Focus.Front Public Health2019
30844479Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.Gene2019
28796411Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.Clin Transl Sci2018
28796445Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.Clin Transl Sci2018
28796411Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.Clin Transl Sci2018
30152198Silver Russel syndrome in an aboriginal patient from Australia.Am J Med Genet A2018
30234091The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.Front Public Health2018
30185236Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.Orphanet J Rare Dis2018
29449719Incidental inequity.Eur J Hum Genet2018
29761096Editorial: Precision Public Health.Front Public Health2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
29802966The melanoma genomics managing your risk study: A protocol for a randomized controlled trial evaluating the impact of personal genomic risk information on skin cancer prevention behaviors.Contemp Clin Trials2018
29802966The melanoma genomics managing your risk study: A protocol for a randomized controlled trial evaluating the impact of personal genomic risk information on skin cancer prevention behaviors.Contemp Clin Trials2018
30185236Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.Orphanet J Rare Dis2018
30152198Silver Russel syndrome in an aboriginal patient from Australia.Am J Med Genet A2018
30234091The Evolution of Public Health Genomics: Exploring Its Past, Present, and Future.Front Public Health2018
29449719Incidental inequity.Eur J Hum Genet2018
29632381Plain-language medical vocabulary for precision diagnosis.Nat Genet2018
29761096Editorial: Precision Public Health.Front Public Health2018
28796445Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.Clin Transl Sci2018
28065523A Web-Based Registry for Familial Hypercholesterolaemia.Heart Lung Circ2017
28468665Initiating an undiagnosed diseases program in the Western Australian public health system.Orphanet J Rare Dis2017
28344196Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration.J Atheroscler Thromb2017
28625604225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.Neuromuscul Disord2017
28796211Medical research: Next decade's goals for rare diseases.Nature2017
284432723-Dimensional Facial Analysis-Facing Precision Public Health.Front Public Health2017
29214589Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.Adv Exp Med Biol2017
29214566Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Adv Exp Med Biol2017
29125504Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.J Neuromuscul Dis2017
29158551The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.Eur J Hum Genet2017
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Collaborators

Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 30
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 18
Caron Molster
Public Health and Clinical Services Division
Co-authored papers 16
Tarun Weeramanthri
University of Western Australia
Co-authored papers 11
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers 9
Ana Rath
INSERM
Co-authored papers 8
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers 8
Tudor Groza
Perth Children's Hospital
Co-authored papers 8
Caroline E Walker
University of London
Co-authored papers 8
Melissa A Haendel
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 6
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 6
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 6
Melissa A Haendel
Co-authored papers 6
Stephanie Broley
King Edward Memorial Hospital
Co-authored papers 6
Christopher P Austin
St. George's University Medical School
Co-authored papers 6
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 6
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 6
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 6
Mats G Hansson
Centre for Research Ethics & Bioethics, Uppsala University
Co-authored papers 5
Paul Lasko
McGill University. Montreal
Co-authored papers 5
Manuel Posada
Institute of Rare Diseases Research, Instituto de Salud Carlos III
Co-authored papers 5
John Beilby
University of Western Australia
Co-authored papers 5
Rachel Thompson
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 5
Richard Palmer
Curtin University
Co-authored papers 5
Petra Kaufmann
Novartis Gene Therapies
Co-authored papers 5
S??gol??ne Aym??
Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite
Co-authored papers 5
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers 5
Yann Le Cam
Co-authored papers 4
Sharron Townshend
King Edward Memorial Hospital
Co-authored papers 4
Julie A McMurry
University of Colorado - Anschutz Medical Campus
Co-authored papers 4
Release 1.2