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Journal of Clinical Medicine|December 6, 2018
The Emerging Role of Neutrophil Granulocytes in Multiple SclerosisTonia Woodberry, Sophie E Bouffler, Alicia S Wilson, et al.
NPJ Genomic Medicine|October 22, 2022
Co-design, implementation, and evaluation of plain language genomic test reportsGemma R Brett, Aisha Ward, Sophie E Bouffler, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2024
Gene selection for genomic newborn screening: Moving toward consensus?Lilian Downie, Sophie E Bouffler, David J Amor, et al.
Genetics in Medicine Open|December 23, 2024
Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national programKirsten Boggs, Fiona Lynch, Michelle Ward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2024
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capabilityGiulia McCorkell, Amy Nisselle, Donna Halton, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomesMelissa Martyn, Ling Lee, Alli Jan, et al.
BMJ Open|June 3, 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 protocolSophie E Bouffler, Ling Lee, Fiona Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.
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