Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort

Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam, Hirokazu Hashimoto, Christina Y. Miyake, Bo Yuan, Charul Gijavanekar, Eric Venner, Viktoriya Korchina, Sarah H. Elsea, Donna M. Muzny, Elizabeth Mizerik, Blake Vuocolo, Poyyapakkam Srivaths, Lisa F. Satter, Sebastian Ochoa, Stephanie Sisley, Polle B. Mihindou, Oguz Kanca, Shinya Yamamoto, Zhandong Liu, Michael F. Wangler, Richard A. Gibbs, Hugo J. Bellen, Katherine Y. King

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DOI: 10.64898/2026.09.24.26363679
Published: 2026-09-30
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Publisher: openRxiv
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BibTeX

@article{allodium:10.64898/2026.09.24.26363679,
  title = {Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort},
  author = {Hyunjung Gu and Aniko Sabo and Sharayu V. Jangam and Hirokazu Hashimoto and Christina Y. Miyake and Bo Yuan and Charul Gijavanekar and Eric Venner and Viktoriya Korchina and Sarah H. Elsea and Donna M. Muzny and Elizabeth Mizerik and Blake Vuocolo and Poyyapakkam Srivaths and Lisa F. Satter and Sebastian Ochoa and Stephanie Sisley and Polle B. Mihindou and Oguz Kanca and Shinya Yamamoto and Zhandong Liu and Michael F. Wangler and Richard A. Gibbs and Hugo J. Bellen and Katherine Y. King},
  year = {2026},
  doi = {10.64898/2026.09.24.26363679},
  url = {https://doi.org/10.64898/2026.09.24.26363679}
}

RIS

TY  - JOUR
TI  - Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort
AU  - Hyunjung Gu
AU  - Aniko Sabo
AU  - Sharayu V. Jangam
AU  - Hirokazu Hashimoto
AU  - Christina Y. Miyake
AU  - Bo Yuan
AU  - Charul Gijavanekar
AU  - Eric Venner
AU  - Viktoriya Korchina
AU  - Sarah H. Elsea
AU  - Donna M. Muzny
AU  - Elizabeth Mizerik
AU  - Blake Vuocolo
AU  - Poyyapakkam Srivaths
AU  - Lisa F. Satter
AU  - Sebastian Ochoa
AU  - Stephanie Sisley
AU  - Polle B. Mihindou
AU  - Oguz Kanca
AU  - Shinya Yamamoto
AU  - Zhandong Liu
AU  - Michael F. Wangler
AU  - Richard A. Gibbs
AU  - Hugo J. Bellen
AU  - Katherine Y. King
PY  - 2026
DO  - 10.64898/2026.09.24.26363679
UR  - https://doi.org/10.64898/2026.09.24.26363679
ER  -

APA

Gu, H., Sabo, A., Jangam, S. V., Hashimoto, H., Miyake, C. Y., Yuan, B., Gijavanekar, C., Venner, E., Korchina, V., Elsea, S. H., Muzny, D. M., Mizerik, E., Vuocolo, B., Srivaths, P., Satter, L. F., Ochoa, S., Sisley, S., Mihindou, P. B., Kanca, O., Yamamoto, S., Liu, Z., Wangler, M. F., Gibbs, R. A., Bellen, H. J., & King, K. Y. (2026). Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort. https://doi.org/10.64898/2026.09.24.26363679

Source records

crossref · retrieved 2026-11-09T03:52:12.554Z