Concepedia

Sophie E. Bouffler

SE

Statistics

Publications

7

Citations

291

H-Index

7

Active since

2022

Affiliations

Victorian Clinical Genetics Services(Current)

Melbourne Genomics Health Alliance

Murdoch Children's Research Institute

The University of Melbourne

Walter and Eliza Hall Institute of Medical Research

Sophie E. Bouffler is an author at Victorian Clinical Genetics Services specializing in genomics, neonatal screening, and genetics.

Publications per year

2022–2025

7

Publications

7

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

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gene selection for genomic newborn screening: Moving toward consensus?

Lilian Downie, Sophie E. Bouffler, David J. Amor et al. · Genetics in Medicine · 2024 · 57 citations · Full text

Medicine, Genetics, Molecular Genetics +14

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

Sebastian Lunke, Sophie E. Bouffler, Lilian Downie et al. · BMJ Open · 2024 · 44 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

Sebastian Lunke, Lilian Downie, Jade Caruana et al. · Nature Medicine · 2025 · 16 citations · Full text

Medicine, Genetics, Pediatrics +16

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

Life Sciences, Genetics, Pediatrics +15

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