Select Publications
Reports
, 2025, A Guideline for Newborn Screening in Spinal Muscular Atrophy in Australia and Aotearoa New Zealand, University of New South Wales, http://dx.doi.org/10.26190/unsworks/31305, https://www.unsw.edu.au/content/dam/images/medicine-health/clinical-medicine/research/2025-05-nbs-for-sma/2025-05-nba-for-sma-guideline-280525.pdf
, 2021, Economic evaluation of newborn screening for severe combined immunodeficiency (SCID) and spinal muscular atrophy (SMA). Sydney: National Perinatal Epidemiology and Statistics Unit, the University of New South Wales, Sydney.
Media
, 2017, What prospective parents need to know about gene tests such as ‘prepair’, https://theconversation.com/what-prospective-parents-need-to-know-about-gene-tests-such-as-prepair-87083
Preprints
, 2025, Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA, http://dx.doi.org/10.1101/2025.01.30.632288
, 2025, Neurodevelopmental Screening in Children with Early Onset Spinal Muscular Atrophy in the Treatment Era: A Strengths-Based Cohort Study, http://dx.doi.org/10.2139/ssrn.5112747
, 2024, Genetic newborn screening stakeholder perspectives, http://dx.doi.org/10.1101/2024.02.11.24302654
, 2024, WITHDRAWN: Eligibility for thrombolysis and outcome in pediatric acute ischemic stroke, http://dx.doi.org/10.1101/2024.07.17.24310608
, 2023, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, http://dx.doi.org/10.21203/rs.3.rs-2282768/v1
, 2022, “The Usual Challenges of Work are All Magnified”: Australian Paediatric Health Professionals’ Experiences During the COVID-19 Pandemic, http://dx.doi.org/10.2139/ssrn.4220687
, <i>'We Needed This'</i>: Perspectives of Parents and Healthcare Professionals Involved in a Pilot Newborn Screening Program for Spinal Muscular Atrophy, http://dx.doi.org/10.2139/ssrn.3682109
, Integrating a Pilot Newborn Screening for Spinal Muscular Atrophy Into the Australian Public Healthcare System, http://dx.doi.org/10.2139/ssrn.3814778