Sophie E Bouffler
6PUBLICATIONS
38CO-AUTHORS
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Publications (6)
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|Oct 09, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Sebastian Lunke, Lilian Downie, Jade Caruana
|Apr 03, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.Sebastian Lunke, Sophie E Bouffler, Lilian Downie
|Feb 14, 2024
Eliciting parental preferences and values for the return of additional findings from genomic sequencing.Ilias Goranitis, Yan Meng, Melissa Martyn
|Jun 08, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.Sebastian Lunke, Sophie E Bouffler, Chirag V Patel
|Jun 03, 2023
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.Sophie E Bouffler, Ling Lee, Fiona Lynch
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Frequent Collaborators
4 joint publications
Yvonne Bombard
4 joint publications
Zornitza Stark
3 joint publications
Sebastian Lunke
2 joint publications
Sebastian Hollizeck
2 joint publications
John Christodoulou
1 joint publications
Ilias Goranitis
1 joint publications
Stephanie Best
1 joint publications
Clara Gaff
1 joint publications
Katherine B Howell
1 joint publications
Tiong Y Tan
