5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder

Laurine Challeat, Solène Remize, Tarek Alouane, David Laurenceau, Chloé Boisseau, Catherine Hubert, Noémie Celton, Nathalie Le Du, Sandrine Vonwill, Camille Gevrin, Lara Kerbellec, Céline Pebrel-Richard, Matthieu Egloff, Caroline Navarro, Isabelle Perthus, Tanguy Niclass, Roseline Caumes, Jade Fauqueux, Médéric Jeanne, Thomas Smol, Frédéric Laumonnier, Marie-Laure Vuillaume

Open source

DOI: 10.1038/s41431-026-02230-7
Published: 2026-09-22
Container: European Journal of Human Genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-026-02230-7,
  title = {5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder},
  author = {Laurine Challeat and Solène Remize and Tarek Alouane and David Laurenceau and Chloé Boisseau and Catherine Hubert and Noémie Celton and Nathalie Le Du and Sandrine Vonwill and Camille Gevrin and Lara Kerbellec and Céline Pebrel-Richard and Matthieu Egloff and Caroline Navarro and Isabelle Perthus and Tanguy Niclass and Roseline Caumes and Jade Fauqueux and Médéric Jeanne and Thomas Smol and Frédéric Laumonnier and Marie-Laure Vuillaume},
  year = {2026},
  journal = {European Journal of Human Genetics},
  doi = {10.1038/s41431-026-02230-7},
  url = {https://doi.org/10.1038/s41431-026-02230-7}
}

RIS

TY  - JOUR
TI  - 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder
AU  - Laurine Challeat
AU  - Solène Remize
AU  - Tarek Alouane
AU  - David Laurenceau
AU  - Chloé Boisseau
AU  - Catherine Hubert
AU  - Noémie Celton
AU  - Nathalie Le Du
AU  - Sandrine Vonwill
AU  - Camille Gevrin
AU  - Lara Kerbellec
AU  - Céline Pebrel-Richard
AU  - Matthieu Egloff
AU  - Caroline Navarro
AU  - Isabelle Perthus
AU  - Tanguy Niclass
AU  - Roseline Caumes
AU  - Jade Fauqueux
AU  - Médéric Jeanne
AU  - Thomas Smol
AU  - Frédéric Laumonnier
AU  - Marie-Laure Vuillaume
PY  - 2026
JO  - European Journal of Human Genetics
DO  - 10.1038/s41431-026-02230-7
UR  - https://doi.org/10.1038/s41431-026-02230-7
ER  -

APA

Challeat, L., Remize, S., Alouane, T., Laurenceau, D., Boisseau, C., Hubert, C., Celton, N., Du, N. L., Vonwill, S., Gevrin, C., Kerbellec, L., Pebrel-Richard, C., Egloff, M., Navarro, C., Perthus, I., Niclass, T., Caumes, R., Fauqueux, J., Jeanne, M., Smol, T., Laumonnier, F., & Vuillaume, M. (2026). 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02230-7

Source records

hal · retrieved 2026-09-26T04:45:18.397Z