First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.
- DOI
- 10.1007/s10048-025-00835-6
- Published
- 2025 Aug 11
- Container
- Neurogenetics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1007/s10048-025-00835-6,
title = {First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.},
author = {Perera BLA and Stewart R and Furuta Y and Ezell KM and Rives L and Nunley B and McMinn A and Krokosky A and Neumann S and Koziura ME and Undiagnosed Diseases Network and Hamid R and Cogan JD and Cassini TA and Gamazon ER and Phillips Iii JA and Tinker RJ},
year = {2025},
journal = {Neurogenetics},
doi = {10.1007/s10048-025-00835-6},
url = {https://doi.org/10.1007/s10048-025-00835-6}
}RIS
TY - JOUR TI - First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene. AU - Perera BLA AU - Stewart R AU - Furuta Y AU - Ezell KM AU - Rives L AU - Nunley B AU - McMinn A AU - Krokosky A AU - Neumann S AU - Koziura ME AU - Undiagnosed Diseases Network AU - Hamid R AU - Cogan JD AU - Cassini TA AU - Gamazon ER AU - Phillips Iii JA AU - Tinker RJ PY - 2025 JO - Neurogenetics DO - 10.1007/s10048-025-00835-6 UR - https://doi.org/10.1007/s10048-025-00835-6 ER -
APA
BLA, P., R, S., Y, F., KM, E., L, R., B, N., A, M., A, K., S, N., ME, K., Network, U. D., R, H., JD, C., TA, C., ER, G., JA, P. I., & RJ, T. (2025). First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.. Neurogenetics. https://doi.org/10.1007/s10048-025-00835-6
Source records
- pubmed · retrieved 2026-09-26T22:38:07.577Z