Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, Øystein L. Holla, Øyvind L. Busk, Henry Houlden, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar, Abdulrahman Alswaid, Giovanni Zifarelli, Peter Bauer, Dana Marafi, Jawid M. Fatih, Kevin Huang, Cassidy Petree, Daniel G. Calame, Charlotte von der Lippe, Fowzan S. Alkuraya, Sami Wali, James R. Lupski, Gaurav K. Varshney, Jennifer E. Posey, Davut Pehlivan

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DOI: 10.1016/j.ajhg.2024.10.002
Published: 2024-11
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.2024.10.002,
  title = {Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia},
  author = {Scott Barish and Sheng-Jia Lin and Reza Maroofian and Alper Gezdirici and Hamoud Alhebby and Aurélien Trimouille and Marta Biderman Waberski and Tadahiro Mitani and Ilka Huber and Kristian Tveten and Øystein L. Holla and Øyvind L. Busk and Henry Houlden and Ehsan Ghayoor Karimiani and Mehran Beiraghi Toosi and Reza Shervin Badv and Paria Najarzadeh Torbati and Fatemeh Eghbal and Javad Akhondian and Ayat Al Safar and Abdulrahman Alswaid and Giovanni Zifarelli and Peter Bauer and Dana Marafi and Jawid M. Fatih and Kevin Huang and Cassidy Petree and Daniel G. Calame and Charlotte von der Lippe and Fowzan S. Alkuraya and Sami Wali and James R. Lupski and Gaurav K. Varshney and Jennifer E. Posey and Davut Pehlivan},
  year = {2024},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2024.10.002},
  url = {https://doi.org/10.1016/j.ajhg.2024.10.002}
}

RIS

TY  - JOUR
TI  - Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
AU  - Scott Barish
AU  - Sheng-Jia Lin
AU  - Reza Maroofian
AU  - Alper Gezdirici
AU  - Hamoud Alhebby
AU  - Aurélien Trimouille
AU  - Marta Biderman Waberski
AU  - Tadahiro Mitani
AU  - Ilka Huber
AU  - Kristian Tveten
AU  - Øystein L. Holla
AU  - Øyvind L. Busk
AU  - Henry Houlden
AU  - Ehsan Ghayoor Karimiani
AU  - Mehran Beiraghi Toosi
AU  - Reza Shervin Badv
AU  - Paria Najarzadeh Torbati
AU  - Fatemeh Eghbal
AU  - Javad Akhondian
AU  - Ayat Al Safar
AU  - Abdulrahman Alswaid
AU  - Giovanni Zifarelli
AU  - Peter Bauer
AU  - Dana Marafi
AU  - Jawid M. Fatih
AU  - Kevin Huang
AU  - Cassidy Petree
AU  - Daniel G. Calame
AU  - Charlotte von der Lippe
AU  - Fowzan S. Alkuraya
AU  - Sami Wali
AU  - James R. Lupski
AU  - Gaurav K. Varshney
AU  - Jennifer E. Posey
AU  - Davut Pehlivan
PY  - 2024
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2024.10.002
UR  - https://doi.org/10.1016/j.ajhg.2024.10.002
ER  -

APA

Barish, S., Lin, S., Maroofian, R., Gezdirici, A., Alhebby, H., Trimouille, A., Waberski, M. B., Mitani, T., Huber, I., Tveten, K., Holla, Ø. L., Busk, Ø. L., Houlden, H., Karimiani, E. G., Toosi, M. B., Badv, R. S., Torbati, P. N., Eghbal, F., Akhondian, J., Safar, A. A., Alswaid, A., Zifarelli, G., Bauer, P., Marafi, D., Fatih, J. M., Huang, K., Petree, C., Calame, D. G., Lippe, C. V. D., Alkuraya, F. S., Wali, S., Lupski, J. R., Varshney, G. K., Posey, J. E., & Pehlivan, D. (2024). Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.10.002

Source records

crossref · retrieved 2026-09-25T22:48:05.475Z