Publications

Perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Erin Tutty, Alison D. Archibald, Lilian Downie, Clara Gaff, Sebastian Lunke, Danya F. Vears, Zornitza Stark and Stephanie Best
European Journal of Human Genetics  |  June 2024

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
Emma L. Baple, Richard H. Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah Wynn, Dominic Wilkinson, Sian Ellard, Daniel G. MacArthur and Zornitza Stark
Nature Medicine  |  June 2024

Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
Human Genomics  |  May 2024

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
Sebastian Lunke, Sophie E. Bouffler, Lilian Downie, Jade Caruana, David J. Amor, Alison Archibald, Yvonne Bombard, John Christodoulou, Marc Clausen, Paul De Fazio, Ronda F. Greaves, Sebastian Hollizeck, Anaita Kanga-Parabia, Nitzan Lang, Fiona Lynch, Riccarda Peters, Simon Sadedin, Erin Tutty, Stefanie Eggers, Crystle Lee, Meaghan Wall, Alison Yeung, Clara Gaff, Christopher Gyngell, Danya F. Vears, Stephanie Best, Ilias Goranitis and Zornitza Stark
BMJ Open  |  April 2024

Gene selection for genomic newborn screening: Moving toward consensus?
Lilian Downie, Sophie E. Bouffler, David J. Amor, John Christodoulou, Alison Yeung, Ari E. Horton, Ivan Macciocca, Alison D. Archibald, Meghan Wall, Jade Caruana, Sebastian Lunke and Zornitza Stark
Genetics in Medicine  |  January 2024

Australian public perspectives on genomic newborn screening: risks, benefits, and preferences for implementation
Fiona Lynch, Stephanie Best, Clara Gaff, Lilian Downie, Alison D. Archibald, Christopher Gyngell, Ilias Goranitis, Riccarda Peters, Julian Savulescu, Sebastian Lunke, Zornitza Stark and Danya F. Vears
International Journal of Neonatal Screening  |  January 2024

Are we ready for whole population genomic sequencing of asymptomatic newborns?
Danya F. Vears, Julian Savulescu, John Christodoulou, Meaghan Wall and Ainsley J Newson
Pharmacogenomics and Personalized Medicine  |  July 2023

Genomic newborn screening for rare diseases
Zornitza Stark and Richard Scott
Nature Reviews Genetics  |  June 2023

Storing paediatric genomic data for sequential interrogation across the lifespan
Christopher Gyngell, Fiona Lynch, Danya F. Vears, Hilary Bowman-Smart, Julian Savulescu and John Christodoulou
Journal of Medical Ethics  |  June 2023