De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder

Wallid Deb, Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard, Sylviane Marouillat, Louis Januel, Svetlana Gorokhova, Tiffany Busa, Victor Morel, Benjamin Dauriat, Vincent Des Portes, Eyyüp Üçtepe, Özlem Akgün Doğan, Ahmet Yeşilyurt, Yasemin Alanay, Anne M. Slavotinek, Yu An, Hane Lee, Jessy Hary, Peter Kannu, Taryn B. Athey, Ingrid M. B. H. van de Laar, Marjon A. van Slegtenhorst, Patricia Dickson, Rachel Slaugh, Fadi F. Hamdan, Jean-François Soucy, Jacques L. Michaud, Alison M. Muir, Rebecca Buchert, Tobias B. Haack, Dominic Imort, Sérgio B. Sousa, Belinda Campos-Xavier, Pedro M. Almeida, Borut Peterlin, Sophie Kaspar, Christian Netzer, Hans Zempel, Meghan C. Towne, Roger L. Ladda, Susan L. Sell, Lina Quteineh, Romane Meurs, Stylianos E. Antonarakis, Pawel Gawlinski, Xiaofei Song, Wojciech Wiszniewski, Daniel G. Calame, Jennifer E. Posey, Frederic Ebstein, James R. Lupski, Bertrand Isidor, Stéphane Bézieau, Frédéric Laumonnier, Sébastien Küry

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DOI
10.1038/s41380-026-03877-w
Published
2026-09-16
Container
Molecular Psychiatry
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1038/s41380-026-03877-w,
  title = {De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder},
  author = {Wallid Deb and Thomas Besnard and Florence Desprez and Benjamin Cogné and Laura Do Souto Ferreira and Virginie Vignard and Sylviane Marouillat and Louis Januel and Svetlana Gorokhova and Tiffany Busa and Victor Morel and Benjamin Dauriat and Vincent Des Portes and Eyyüp Üçtepe and Özlem Akgün Doğan and Ahmet Yeşilyurt and Yasemin Alanay and Anne M. Slavotinek and Yu An and Hane Lee and Jessy Hary and Peter Kannu and Taryn B. Athey and Ingrid M. B. H. van de Laar and Marjon A. van Slegtenhorst and Patricia Dickson and Rachel Slaugh and Fadi F. Hamdan and Jean-François Soucy and Jacques L. Michaud and Alison M. Muir and Rebecca Buchert and Tobias B. Haack and Dominic Imort and Sérgio B. Sousa and Belinda Campos-Xavier and Pedro M. Almeida and Borut Peterlin and Sophie Kaspar and Christian Netzer and Hans Zempel and Meghan C. Towne and Roger L. Ladda and Susan L. Sell and Lina Quteineh and Romane Meurs and Stylianos E. Antonarakis and Pawel Gawlinski and Xiaofei Song and Wojciech Wiszniewski and Daniel G. Calame and Jennifer E. Posey and Frederic Ebstein and James R. Lupski and Bertrand Isidor and Stéphane Bézieau and Frédéric Laumonnier and Sébastien Küry},
  year = {2026},
  journal = {Molecular Psychiatry},
  doi = {10.1038/s41380-026-03877-w},
  url = {https://doi.org/10.1038/s41380-026-03877-w}
}

RIS

TY  - JOUR
TI  - De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder
AU  - Wallid Deb
AU  - Thomas Besnard
AU  - Florence Desprez
AU  - Benjamin Cogné
AU  - Laura Do Souto Ferreira
AU  - Virginie Vignard
AU  - Sylviane Marouillat
AU  - Louis Januel
AU  - Svetlana Gorokhova
AU  - Tiffany Busa
AU  - Victor Morel
AU  - Benjamin Dauriat
AU  - Vincent Des Portes
AU  - Eyyüp Üçtepe
AU  - Özlem Akgün Doğan
AU  - Ahmet Yeşilyurt
AU  - Yasemin Alanay
AU  - Anne M. Slavotinek
AU  - Yu An
AU  - Hane Lee
AU  - Jessy Hary
AU  - Peter Kannu
AU  - Taryn B. Athey
AU  - Ingrid M. B. H. van de Laar
AU  - Marjon A. van Slegtenhorst
AU  - Patricia Dickson
AU  - Rachel Slaugh
AU  - Fadi F. Hamdan
AU  - Jean-François Soucy
AU  - Jacques L. Michaud
AU  - Alison M. Muir
AU  - Rebecca Buchert
AU  - Tobias B. Haack
AU  - Dominic Imort
AU  - Sérgio B. Sousa
AU  - Belinda Campos-Xavier
AU  - Pedro M. Almeida
AU  - Borut Peterlin
AU  - Sophie Kaspar
AU  - Christian Netzer
AU  - Hans Zempel
AU  - Meghan C. Towne
AU  - Roger L. Ladda
AU  - Susan L. Sell
AU  - Lina Quteineh
AU  - Romane Meurs
AU  - Stylianos E. Antonarakis
AU  - Pawel Gawlinski
AU  - Xiaofei Song
AU  - Wojciech Wiszniewski
AU  - Daniel G. Calame
AU  - Jennifer E. Posey
AU  - Frederic Ebstein
AU  - James R. Lupski
AU  - Bertrand Isidor
AU  - Stéphane Bézieau
AU  - Frédéric Laumonnier
AU  - Sébastien Küry
PY  - 2026
JO  - Molecular Psychiatry
DO  - 10.1038/s41380-026-03877-w
UR  - https://doi.org/10.1038/s41380-026-03877-w
ER  - 

APA

Deb, W., Besnard, T., Desprez, F., Cogné, B., Ferreira, L. D. S., Vignard, V., Marouillat, S., Januel, L., Gorokhova, S., Busa, T., Morel, V., Dauriat, B., Portes, V. D., Üçtepe, E., Doğan, Ö. A., Yeşilyurt, A., Alanay, Y., Slavotinek, A. M., An, Y., Lee, H., Hary, J., Kannu, P., Athey, T. B., Laar, I. M. B. H. V. D., Slegtenhorst, M. A. V., Dickson, P., Slaugh, R., Hamdan, F. F., Soucy, J., Michaud, J. L., Muir, A. M., Buchert, R., Haack, T. B., Imort, D., Sousa, S. B., Campos-Xavier, B., Almeida, P. M., Peterlin, B., Kaspar, S., Netzer, C., Zempel, H., Towne, M. C., Ladda, R. L., Sell, S. L., Quteineh, L., Meurs, R., Antonarakis, S. E., Gawlinski, P., Song, X., Wiszniewski, W., Calame, D. G., Posey, J. E., Ebstein, F., Lupski, J. R., Isidor, B., Bézieau, S., Laumonnier, F., & Küry, S. (2026). De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder. Molecular Psychiatry. https://doi.org/10.1038/s41380-026-03877-w

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