Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Bayam E, Tilly P, Collins SC, Rivera Alvarez J, Kannan M, Tonneau L, Brivio E, Rinaldi B, Lecat R, Schwaller N, Cotellessa L, Maddirevula S, Monteiro F, Guardia CM, Kitajima JP, Kok F, Kato M, Hamed AAA, Salih MA, Al Tala S, Hashem MO, Tada H, Saitsu H, Stabile M, Giacobini P, Friant S, Yüksel Z, Nakashima M, Alkuraya FS, Yalcin B, Godin JD

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DOI: 10.1038/s44321-024-00178-z
Published: 2025 Jan
Container: EMBO molecular medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s44321-024-00178-z,
  title = {Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.},
  author = {Bayam E and Tilly P and Collins SC and Rivera Alvarez J and Kannan M and Tonneau L and Brivio E and Rinaldi B and Lecat R and Schwaller N and Cotellessa L and Maddirevula S and Monteiro F and Guardia CM and Kitajima JP and Kok F and Kato M and Hamed AAA and Salih MA and Al Tala S and Hashem MO and Tada H and Saitsu H and Stabile M and Giacobini P and Friant S and Yüksel Z and Nakashima M and Alkuraya FS and Yalcin B and Godin JD},
  year = {2025},
  journal = {EMBO molecular medicine},
  doi = {10.1038/s44321-024-00178-z},
  url = {https://doi.org/10.1038/s44321-024-00178-z}
}

RIS

TY  - JOUR
TI  - Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
AU  - Bayam E
AU  - Tilly P
AU  - Collins SC
AU  - Rivera Alvarez J
AU  - Kannan M
AU  - Tonneau L
AU  - Brivio E
AU  - Rinaldi B
AU  - Lecat R
AU  - Schwaller N
AU  - Cotellessa L
AU  - Maddirevula S
AU  - Monteiro F
AU  - Guardia CM
AU  - Kitajima JP
AU  - Kok F
AU  - Kato M
AU  - Hamed AAA
AU  - Salih MA
AU  - Al Tala S
AU  - Hashem MO
AU  - Tada H
AU  - Saitsu H
AU  - Stabile M
AU  - Giacobini P
AU  - Friant S
AU  - Yüksel Z
AU  - Nakashima M
AU  - Alkuraya FS
AU  - Yalcin B
AU  - Godin JD
PY  - 2025
JO  - EMBO molecular medicine
DO  - 10.1038/s44321-024-00178-z
UR  - https://doi.org/10.1038/s44321-024-00178-z
ER  -

APA

E, B., P, T., SC, C., J, R. A., M, K., L, T., E, B., B, R., R, L., N, S., L, C., S, M., F, M., CM, G., JP, K., F, K., M, K., AAA, H., MA, S., S, A. T., MO, H., H, T., H, S., M, S., P, G., S, F., Z, Y., M, N., FS, A., B, Y., & JD, G. (2025). Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.. EMBO molecular medicine. https://doi.org/10.1038/s44321-024-00178-z

Source records

pubmed · retrieved 2026-09-26T02:13:15.221Z
europe-pmc · retrieved 2026-09-26T02:13:15.231Z
doaj · retrieved 2026-09-26T02:13:15.260Z
hal · retrieved 2026-09-26T02:13:15.278Z