The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics
- DOI
- 10.1016/j.ajhg.2025.09.013
- Published
- 2025-11
- Container
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1016/j.ajhg.2025.09.013,
title = {The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics},
author = {Sen Zhao and Jefferson C. Sinson and Shenglan Li and Jill A. Rosenfeld and Gladys Zapata and Kristina Macakova and Mezthly Pena and Becky Maywald and Kim C. Worley and Lindsay C. Burrage and Monika Weisz-Hubshman and Shamika Ketkar and William Craigen and Lisa Emrick and Tyson Clark and Gila Yanai Lithwick and Zohar Shipony and Christine Eng and Brendan Lee and Pengfei Liu},
year = {2025},
journal = {The American Journal of Human Genetics},
doi = {10.1016/j.ajhg.2025.09.013},
url = {https://doi.org/10.1016/j.ajhg.2025.09.013}
}RIS
TY - JOUR TI - The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics AU - Sen Zhao AU - Jefferson C. Sinson AU - Shenglan Li AU - Jill A. Rosenfeld AU - Gladys Zapata AU - Kristina Macakova AU - Mezthly Pena AU - Becky Maywald AU - Kim C. Worley AU - Lindsay C. Burrage AU - Monika Weisz-Hubshman AU - Shamika Ketkar AU - William Craigen AU - Lisa Emrick AU - Tyson Clark AU - Gila Yanai Lithwick AU - Zohar Shipony AU - Christine Eng AU - Brendan Lee AU - Pengfei Liu PY - 2025 JO - The American Journal of Human Genetics DO - 10.1016/j.ajhg.2025.09.013 UR - https://doi.org/10.1016/j.ajhg.2025.09.013 ER -
APA
Zhao, S., Sinson, J. C., Li, S., Rosenfeld, J. A., Zapata, G., Macakova, K., Pena, M., Maywald, B., Worley, K. C., Burrage, L. C., Weisz-Hubshman, M., Ketkar, S., Craigen, W., Emrick, L., Clark, T., Lithwick, G. Y., Shipony, Z., Eng, C., Lee, B., & Liu, P. (2025). The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.09.013
Source records
- crossref · retrieved 2026-09-27T05:55:55.228Z