Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung‐Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gérard, Bénédicte, Smol, Thomas, Vincent‐Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne‐Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau‐Them, Frederic Tran, et al

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DOI: 10.5167/uzh-262437
Published: 2025
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Publisher: Wiley-Blackwell Publishing, Inc.
Open access: no

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Cite this work

BibTeX

@article{allodium:10.5167/uzh-262437,
  title = {Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder},
  author = {Blackburn, Patrick R and Ebstein, Frédéric and Hsieh, Tzung‐Chien and Motta, Marialetizia and Radio, Francesca Clementina and Herkert, Johanna C and Rinne, Tuula and Thiffault, Isabelle and Rapp, Michele and Alders, Mariel and Maas, Saskia and Gérard, Bénédicte and Smol, Thomas and Vincent‐Delorme, Catherine and Cogné, Benjamin and Isidor, Bertrand and Vincent, Marie and Bachmann-Gagescu, Ruxandra and Rauch, Anita and Joset, Pascal and Ferrero, Giovanni Battista and Ciolfi, Andrea and Husson, Thomas and Guerrot, Anne‐Marie and Bacino, Carlos and Macmurdo, Colleen and Thompson, Stephanie S and Rosenfeld, Jill A and Faivre, Laurence and Mau‐Them, Frederic Tran and et al},
  year = {2025},
  doi = {10.5167/uzh-262437},
  url = {https://doi.org/10.5167/uzh-262437}
}

RIS

TY  - JOUR
TI  - Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
AU  - Blackburn, Patrick R
AU  - Ebstein, Frédéric
AU  - Hsieh, Tzung‐Chien
AU  - Motta, Marialetizia
AU  - Radio, Francesca Clementina
AU  - Herkert, Johanna C
AU  - Rinne, Tuula
AU  - Thiffault, Isabelle
AU  - Rapp, Michele
AU  - Alders, Mariel
AU  - Maas, Saskia
AU  - Gérard, Bénédicte
AU  - Smol, Thomas
AU  - Vincent‐Delorme, Catherine
AU  - Cogné, Benjamin
AU  - Isidor, Bertrand
AU  - Vincent, Marie
AU  - Bachmann-Gagescu, Ruxandra
AU  - Rauch, Anita
AU  - Joset, Pascal
AU  - Ferrero, Giovanni Battista
AU  - Ciolfi, Andrea
AU  - Husson, Thomas
AU  - Guerrot, Anne‐Marie
AU  - Bacino, Carlos
AU  - Macmurdo, Colleen
AU  - Thompson, Stephanie S
AU  - Rosenfeld, Jill A
AU  - Faivre, Laurence
AU  - Mau‐Them, Frederic Tran
AU  - et al
PY  - 2025
DO  - 10.5167/uzh-262437
UR  - https://doi.org/10.5167/uzh-262437
ER  -

APA

R, B. P., Frédéric, E., Tzung‐Chien, H., Marialetizia, M., Clementina, R. F., C, H. J., Tuula, R., Isabelle, T., Michele, R., Mariel, A., Saskia, M., Bénédicte, G., Thomas, S., Catherine, V., Benjamin, C., Bertrand, I., Marie, V., Ruxandra, B., Anita, R., Pascal, J., Battista, F. G., Andrea, C., Thomas, H., Anne‐Marie, G., Carlos, B., Colleen, M., S, T. S., A, R. J., Laurence, F., Tran, M. F., & al, E. (2025). Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder. https://doi.org/10.5167/uzh-262437

Source records

datacite · retrieved 2026-09-25T11:22:12.506Z