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Author Details
Full Name
Stephanie Broley
Affiliation
King Edward Memorial Hospital
ORCID
Career Start Year
2013
Papers
11
H Index
8
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36628540
Australian guidelines for the management of children with achondroplasia.
J Paediatr Child Health
2023
33303739
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
NPJ Genom Med
2020
31873296
A call for global action for rare diseases in Africa.
Nat Genet
2020
30844479
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Gene
2019
30152198
Silver Russel syndrome in an aboriginal patient from Australia.
Am J Med Genet A
2018
29214566
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
2017
28377321
Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.
Eur J Med Genet
2017
28468665
Initiating an undiagnosed diseases program in the Western Australian public health system.
Orphanet J Rare Dis
2017
27287197
The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.
Orphanet J Rare Dis
2016
24674092
The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.
BMC Musculoskelet Disord
2014
23242929
Acceptance and commitment therapy in genetic counselling: a case study of recurrent worry.
J Genet Couns
2013
1 - 11 of 11
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row(s) 1 - 30 of 30
Collaborators
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers
9
Fiona McKenzie
King Edward Memorial Hospital
Co-authored papers
6
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers
6
Nicholas Pachter
King Edward Memorial Hospital
Co-authored papers
6
Sharron Townshend
King Edward Memorial Hospital
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4
Kym Mina
QEII Medical Centre
Co-authored papers
4
Andreas Zankl
The University of Sydney
Co-authored papers
4
Jennie Slee
King Edward Memorial Hospital
Co-authored papers
4
Cathy Kiraly-Borri
Princess Margaret Hospital
Co-authored papers
4
John Beilby
University of Western Australia
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4
Jack Goldblatt
King Edward Memorial Hospital for Women
Co-authored papers
4
Lyn Schofield
King Edward Memorial Hospital for Women Perth
Co-authored papers
3
William A Gahl
National Human Genome Research Institute, National Institutes of Health
Co-authored papers
3
Stephen C Groft
National Center for Advancing Translational Sciences, National Institutes of Health
Co-authored papers
3
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
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3
Caron Molster
Public Health and Clinical Services Division
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3
Tudor Groza
Perth Children's Hospital
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3
Anand Vasudevan
Royal Women's Hospital
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3
Caroline E Walker
University of London
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3
Anne Hawkins
Stanford University School of Medicine
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Kym M Boycott
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