Concepedia

Stephanie Broley

SB

7

Publications

234

Citations

7

H-Index

2012

Active since

Affiliations

The University of Western Australia(Current)

Curtin University

The Kids Research Institute Australia

King Edward Memorial Hospital

Princess Margaret Hospital for Children

Stephanie Broley is an author at The University of Western Australia specializing in social sciences, counseling, and international health.

Top concepts

Publications per year

2012–2023

7

Publications

7

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

Gareth Baynam, Nicholas Pachter, F. Ellis McKenzie et al. · Orphanet Journal of Rare Diseases · 2016 · 73 citations · Full text

A call for global action for rare diseases in Africa

Gareth Baynam, Stephen C. Groft, Francois H. van der Westhuizen et al. · Nature Genetics · 2019 · 63 citations · Full text

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

Gareth Baynam, Stephanie Broley, Alicia Bauskis et al. · Orphanet Journal of Rare Diseases · 2017 · 40 citations · Full text

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

Syndia Lazarus, Aideen McInerney‐Leo, Fiona A. McKenzie et al. · BMC Musculoskeletal Disorders · 2014 · 21 citations · Full text

Silver Russel syndrome in an aboriginal patient from Australia

Cathryn Poulton, Dimitar N. Azmanov, Vanessa Atkinson et al. · American Journal of Medical Genetics Part A · 2018 · 16 citations

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