Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.
- DOI
- 10.1038/s41431-026-02210-x
- Published
- 2026 Aug 5
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-026-02210-x,
title = {Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.},
author = {Dutta P and Pagnamenta AT and Robert C and McGuigan AEF and Ross A and Tobias ES and McGowan R and Ansari M and Baty D and Berg J and Bradley T and Cerqueira V and Diamond A and Halachev M and Lampe A and Meynert A and Newman C and Thomson M and Trivedi U and Williams N and Yu J and Santoyo-Lopez J and Miedzybrodzka Z and Taylor JC and Aitman TJ},
year = {2026},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-026-02210-x},
url = {https://doi.org/10.1038/s41431-026-02210-x}
}RIS
TY - JOUR TI - Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project. AU - Dutta P AU - Pagnamenta AT AU - Robert C AU - McGuigan AEF AU - Ross A AU - Tobias ES AU - McGowan R AU - Ansari M AU - Baty D AU - Berg J AU - Bradley T AU - Cerqueira V AU - Diamond A AU - Halachev M AU - Lampe A AU - Meynert A AU - Newman C AU - Thomson M AU - Trivedi U AU - Williams N AU - Yu J AU - Santoyo-Lopez J AU - Miedzybrodzka Z AU - Taylor JC AU - Aitman TJ PY - 2026 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-026-02210-x UR - https://doi.org/10.1038/s41431-026-02210-x ER -
APA
P, D., AT, P., C, R., AEF, M., A, R., ES, T., R, M., M, A., D, B., J, B., T, B., V, C., A, D., M, H., A, L., A, M., C, N., M, T., U, T., N, W., J, Y., J, S., Z, M., JC, T., & TJ, A. (2026). Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02210-x
Source records
- pubmed · retrieved 2026-09-26T09:24:31.725Z