Miss Lilian Downie
Honorary (Senior Fellow)
Department of Paediatrics
27 Scholarly works
0 Projects
HIGHLIGHTS
2025
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.2024.1013272024
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
RECENT SCHOLARLY WORKS
2024
Journal article
Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation
DOI: 10.3390/ijns100100062023
Journal article
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
DOI: 10.1016/j.gim.2023.1009272023
Journal article
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
DOI: 10.1136/bmjopen-2023-072999