Concepedia

Sophie E. Bouffler

SE

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Publications

5

Citations

238

H-Index

5

Active since

2022

Affiliations

Victorian Clinical Genetics Services(Current)

Melbourne Genomics Health Alliance

The University of Melbourne

Murdoch Children's Research Institute

Monash University

Sophie E. Bouffler is an author at Victorian Clinical Genetics Services specializing in genetic epidemiology, genomics, and medicine.

ORCID

Top concepts

Publications per year

2022–2024

5

Publications

5

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

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 122 citations · Full text

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Gene selection for genomic newborn screening: Moving toward consensus?

Lilian Downie, Sophie E. Bouffler, David J. Amor et al. · Genetics in Medicine · 2024 · 52 citations · Full text

, , +8

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

Sebastian Lunke, Sophie E. Bouffler, Lilian Downie et al. · BMJ Open · 2024 · 41 citations · Full text

Co-design, implementation, and evaluation of plain language genomic test reports

Gemma R. Brett, Aisha Ward, Sophie E. Bouffler et al. · npj Genomic Medicine · 2022 · 12 citations · Full text

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 et al. · BMJ Open · 2023 · 11 citations · Full text

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