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

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Journal
BMJ Open
Published
2025-08-01
DOI
https://doi.org/10.1136/bmjopen-2025-107603
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Oana Caluseriu, Gordon McSheffrey, Kaitlin Stanley, Alexandre White‐Brown et al.
BMJ Open
Genomics and Rare Diseases
article

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

Oana Caluseriu, Gordon McSheffrey, Kaitlin Stanley, Alexandre White‐Brown, Roberto Mendoza‐Londono, Jasmin Bhawra, Martin J. Somerville, Sonya Elango, Nicola Signore, Robin Z. Hayeems, Salma Shickh, Gregory Costain, Stacy Hewson, Christian R. Marshall, Sarah L. Sawyer, Stephanie Telesca, Raymond H. Kim, Kym M. Boycott, Viji Venkataramanan, Taila Hartley, Wendy J. Ungar, Meredith Gillespie, Caitlin Chisholm
article en

Abstract

No abstract available for this paper.
BMJ OpenVol. 15(8)
Mount Sinai Hospital (CA), University Health Network (CA), Centre for Addiction and Mental Health (CA), University of Ottawa (CA), University of Alberta (CA), University of Toronto (CA), Children's Hospital of Eastern Ontario (CA), Hospital for Sick Children (CA), SickKids Foundation (CA), Institute for Clinical Evaluative Sciences (CA), Toronto Metropolitan University (CA)
Hospital for Sick Children, Canadian Institutes of Health Research
Partnerships for the goals
Openalex Percentile: Top 77%
Genomics and Rare Diseases
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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 — Oana Caluseriu, Gordon McSheffrey, et al. · BMJ Open (2025) | TGRS Research Map | TGRS