Miss Lilian Downie
Honorary (Senior Fellow)
Department of Paediatrics
30 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
The Genetic Causes of Auditory Neuropathy: A Systematic Review
DOI: 10.3390/jcm151142602026
Journal article
Implementing Publicly Funded Fetal Exome Sequencing: A Statewide Multidisciplinary Model for Equitable Integration of Genomics Into Perinatal Care
DOI: 10.1002/pd.700602026
Journal article
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
DOI: 10.1016/j.gim.2025.1016182025
Journal article
Insights and Experiences From the ‘Gatekeepers’: A Qualitative Study Exploring Clinician Perspectives on Providing Publicly Funded Prenatal Exome Sequencing
DOI: 10.1111/ajo.700282025
Journal article
Feasibility, acceptability and clinical outcomes of the BabyScreen genomic newborn screening study
DOI: 10.1038/s41591-025-03986-z2025
Journal article
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
DOI: 10.1016/j.ajhg.2025.05.0012025
Journal article
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes
DOI: 10.1016/j.gim.2024.101327
RECENT SCHOLARLY WORKS
2024
Journal article
Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
DOI: 10.1038/s41431-024-01650-72024
Journal article
Australian public perspectives on genomic newborn screening: which conditions should be included?
DOI: 10.1186/s40246-024-00611-x2024
Journal article
Gene selection for genomic newborn screening: Moving toward consensus?
DOI: 10.1016/j.gim.2024.101077