Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
- DOI
- 10.1038/s41467-025-61712-2
- Published
- 2025-08-07
- Container
- Nat Commun
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1038/s41467-025-61712-2,
title = {Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.},
author = {Kobren SN and Moldovan MA and Reimers R and Traviglia D and Li X and Barnum D and Veit A and Corona RI and Carvalho Neto GV and Willett J and Berselli M and Ronchetti W and Nelson SF and Martinez-Agosto JA and Sherwood R and Krier J and Kohane IS and Undiagnosed Diseases Network and Sunyaev SR.},
year = {2025},
journal = {Nat Commun},
doi = {10.1038/s41467-025-61712-2},
url = {https://doi.org/10.1038/s41467-025-61712-2}
}RIS
TY - JOUR TI - Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. AU - Kobren SN AU - Moldovan MA AU - Reimers R AU - Traviglia D AU - Li X AU - Barnum D AU - Veit A AU - Corona RI AU - Carvalho Neto GV AU - Willett J AU - Berselli M AU - Ronchetti W AU - Nelson SF AU - Martinez-Agosto JA AU - Sherwood R AU - Krier J AU - Kohane IS AU - Undiagnosed Diseases Network AU - Sunyaev SR. PY - 2025 JO - Nat Commun DO - 10.1038/s41467-025-61712-2 UR - https://doi.org/10.1038/s41467-025-61712-2 ER -
APA
SN, K., MA, M., R, R., D, T., X, L., D, B., A, V., RI, C., GV, C. N., J, W., M, B., W, R., SF, N., JA, M., R, S., J, K., IS, K., Network, U. D., & SR., S. (2025). Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.. Nat Commun. https://doi.org/10.1038/s41467-025-61712-2
Source records
- europe-pmc · retrieved 2026-09-26T19:17:58.871Z
- doaj · retrieved 2026-09-26T19:17:58.877Z