Sarah L. Sawyer

Ottawa, ON, Canada

Last Updated: 09/26/2026

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Found 55 publications

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study.

Journal: BMJ open

Published: March 27, 2026

The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility.

The Patient-reported Genetic testing Utility InDEx (P-GUIDE): A novel measure of personal utility.

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

Published: December 16, 2025

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist.

Journal: BMJ open

Published: August 10, 2025

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

Journal: Journal of genetic counseling

Published: July 11, 2025

How does personal utility depend on clinical setting? Evidence from 3 cohorts.

How does personal utility depend on clinical setting? Evidence from 3 cohorts.

Journal: Genetics in medicine open

Published: May 13, 2025

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.

Journal: Clinical genetics

Published: March 12, 2025

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

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

Published: February 24, 2025

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 2025

ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record.

ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record.

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

Published: January 25, 2025

Mainstreaming of clinical genetic testing: A conceptual framework.

Mainstreaming of clinical genetic testing: A conceptual framework.

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

Published: January 15, 2025

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

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

Published: January 10, 2025

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.

Journal: American journal of human genetics

Published: May 15, 2024

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Last Updated: 09/26/2026