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Employment (1)

Australian Genomics Health Alliance: Parkville, VIC, AU

Employment
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Sophie Bouffler

Works (6)

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program

Genetics in Medicine Open
2024 | Journal article
DOI: 10.1016/j.gimo.2024.101878
Contributors: Kirsten Boggs; Fiona Lynch; Michelle Ward; Sophie E. Bouffler; Samantha Ayres; Robin Forbes; Amanda Springer; Michelle G. de Silva; Elly Lynch; Lyndon Gallacher et al.
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A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability

Genetics in Medicine
2024-10 | Journal article
DOI: 10.1016/j.gim.2024.101224
Contributors: Giulia McCorkell; Amy Nisselle; Donna Halton; Sophie E. Bouffler; Chirag Patel; John Christodoulou; Fran Maher; Belinda McClaren; Gemma R. Brett; Sarah Sandaradura et al.
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Crossref

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

BMJ Open
2024-04 | Journal article
DOI: 10.1136/bmjopen-2023-081426
Contributors: Sebastian Lunke; Sophie E Bouffler; Lilian Downie; Jade Caruana; David J Amor; Alison Archibald; Yvonne Bombard; John Christodoulou; Marc Clausen; Paul De Fazio et al.
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Eliciting parental preferences and values for the return of additional findings from genomic sequencing

npj Genomic Medicine
2024-02-14 | Journal article
DOI: 10.1038/s41525-024-00399-8
Contributors: Ilias Goranitis; Yan Meng; Melissa Martyn; Stephanie Best; Sophie Bouffler; Yvonne Bombard; Clara Gaff; Zornitza Stark
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Crossref

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Nature Medicine
2023-07 | Journal article
DOI: 10.1038/s41591-023-02401-9
Contributors: Sebastian Lunke; Sophie E. Bouffler; Chirag V. Patel; Sarah A. Sandaradura; Meredith Wilson; Jason Pinner; Matthew F. Hunter; Christopher P. Barnett; Mathew Wallis; Benjamin Kamien et al.
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Crossref

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

BMJ Open
2023-06 | Journal article
DOI: 10.1136/bmjopen-2023-072999
Contributors: Sophie E Bouffler; Ling Lee; Fiona Lynch; Melissa Martyn; Elly Lynch; Ivan Macciocca; Lisette Curnow; Giulia McCorkell; Sebastian Lunke; Belinda Chong et al.
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