Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians
- DOI
- 10.1186/s13023-020-01461-1
- Published
- 2020-07-22
- Container
- Orphanet Journal of Rare Diseases
- Publisher
- Springer Science and Business Media LLC
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1186/s13023-020-01461-1,
title = {Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians},
author = {Michael M. Segal and Renee George and Peter Waltman and Ayman W. El-Hattab and Kiely N. James and Valentina Stanley and Joseph Gleeson},
year = {2020},
journal = {Orphanet Journal of Rare Diseases},
doi = {10.1186/s13023-020-01461-1},
url = {https://doi.org/10.1186/s13023-020-01461-1}
}RIS
TY - JOUR TI - Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians AU - Michael M. Segal AU - Renee George AU - Peter Waltman AU - Ayman W. El-Hattab AU - Kiely N. James AU - Valentina Stanley AU - Joseph Gleeson PY - 2020 JO - Orphanet Journal of Rare Diseases DO - 10.1186/s13023-020-01461-1 UR - https://doi.org/10.1186/s13023-020-01461-1 ER -
APA
Segal, M. M., George, R., Waltman, P., El-Hattab, A. W., James, K. N., Stanley, V., & Gleeson, J. (2020). Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-020-01461-1
Source records
- crossref · retrieved 2026-09-26T02:44:17.770Z