Author

Stephanie Broley

Observed names: Broley, Stephanie, S. Broley

Institutions: Princess Margaret Hospital for Children, King Edward Memorial Hospital, Perth Children's Hospital

Observed institutions: Government of Western Australia, Princess Margaret Hospital for Children, Government of Western Australia Department of Health, King Edward Memorial Hospital, Perth Childrens Hospital Foundation, Perth Children's Hospital

OpenAlex ID: A5046663399

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

2016 · Gareth Baynam, Nicholas Pachter, et al. · Orphanet Journal of Rare Diseases · 66

A call for global action for rare diseases in Africa

2019 · Gareth S. Baynam, Stephen Groft, et al. · Nature Genetics · 57

Initiating an undiagnosed diseases program in the Western Australian public health system

2017 · Gareth Baynam, Stephanie Broley, et al. · Orphanet Journal of Rare Diseases · 39

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

2017 · Gareth Baynam, Faye Bowman, et al. · Advances in experimental medicine and biology · 33

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

2014 · Syndia Lazarus, Aideen M McInerney-Leo, et al. · BMC Musculoskeletal Disorders · 24

Silver Russel syndrome in an aboriginal patient from Australia

2018 · Cathryn Poulton, Dimitar Azmanov, et al. · American Journal of Medical Genetics Part A · 17

Australian guidelines for the management of children with achondroplasia

2023 · Louise J Tofts, Jennifer A Armstrong, et al. · Journal of Paediatrics and Child Health · 15

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

2017 · P.Y.B. Au, L. Huang, et al. · European Journal of Medical Genetics · 15

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

2019 · C. Poulton, G. Pathak, et al. · Gene · 14

Acceptance and Commitment Therapy in Genetic Counselling: A Case Study of Recurrent Worry

2012 · Stephanie Broley · Journal of Genetic Counseling · 10

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

2020 · Timo Lassmann, Richard W. Francis, et al. · npj Genomic Medicine · 7

Rare care – Cross-sector care coordination

2025 · Gareth Baynam, Joanne Siffleet, et al. · European Journal of Medical Genetics · 5

AB002. The rare and undiagnosed diseases diagnostic service

2015 · Gareth Baynam, Nicholas Pachter, et al. · Murdoch University Research Portal · 1

Additional file 1: of Initiating an undiagnosed diseases program in the Western Australian public health system

2017 · Baynam, Gareth, Broley, Stephanie, et al. · Figshare

Works count: 17

Citation count: 303

H-index: 10

I10-index: 10