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.
- DOI
- 10.1136/bmjopen-2025-107603
- Published
- 2025 Aug 10
- Container
- BMJ open
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
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Cite this work
BibTeX
@article{allodium:10.1136/bmjopen-2025-107603,
title = {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.},
author = {Stanley KJ and Chisholm C and Gillespie MK and Caluseriu O and Del Signore N and Elango S and Hartley T and Hewson S and Kim RH and McSheffrey G and Mendoza-Londono R and Sawyer SL and Somerville M and Venkataramanan V and White-Brown A and Telesca S and Shickh S and Marshall CR and Ungar WJ and Hayeems RZ and Bhawra J and Boycott KM and Costain G},
year = {2025},
journal = {BMJ open},
doi = {10.1136/bmjopen-2025-107603},
url = {https://doi.org/10.1136/bmjopen-2025-107603}
}RIS
TY - JOUR TI - 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. AU - Stanley KJ AU - Chisholm C AU - Gillespie MK AU - Caluseriu O AU - Del Signore N AU - Elango S AU - Hartley T AU - Hewson S AU - Kim RH AU - McSheffrey G AU - Mendoza-Londono R AU - Sawyer SL AU - Somerville M AU - Venkataramanan V AU - White-Brown A AU - Telesca S AU - Shickh S AU - Marshall CR AU - Ungar WJ AU - Hayeems RZ AU - Bhawra J AU - Boycott KM AU - Costain G PY - 2025 JO - BMJ open DO - 10.1136/bmjopen-2025-107603 UR - https://doi.org/10.1136/bmjopen-2025-107603 ER -
APA
KJ, S., C, C., MK, G., O, C., N, D. S., S, E., T, H., S, H., RH, K., G, M., R, M., SL, S., M, S., V, V., A, W., S, T., S, S., CR, M., WJ, U., RZ, H., J, B., KM, B., & G, C. (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.. BMJ open. https://doi.org/10.1136/bmjopen-2025-107603