Sophie E. Bouffler

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 15 publications

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Journal: Epilepsia open

Published: October 27, 2025

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.

Journal: NPJ genomic medicine

Published: August 16, 2025

Impact of a digital platform on genetic counselling encounters in the screening context.

Impact of a digital platform on genetic counselling encounters in the screening context.

Journal: European journal of human genetics : EJHG

Published: July 11, 2025

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

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

Journal: Nature medicine

Published: May 07, 2025

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 23, 2024

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 17, 2024

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

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

Journal: BMJ open

Published: April 03, 2024

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

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

Journal: Genetics in medicine open

Published: February 01, 2024

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 01, 2024

Gene selection for genomic newborn screening: Moving toward consensus?

Gene selection for genomic newborn screening: Moving toward consensus?

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 06, 2023

Eliciting parental preferences and values for the return of additional findings from genomic sequencing.

Eliciting parental preferences and values for the return of additional findings from genomic sequencing.

Journal: NPJ genomic medicine

Published: August 26, 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.

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.

Journal: BMJ open

Published: June 03, 2023

Showing 1-12 of 15

Last Updated: 09/26/2026