Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

BibTeX

@article{allodium:10.1038/s41588-026-02554-6,
  title = {Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes},
  author = {Rocio Rius and Alexander J. M. Blakes and Yuyang Chen and Joachim De Jonghe and François Lecoquierre and Ruebena Dawes and Benjamin Cogne and Hyung Chul Kim and Javeria R. Alvi and Florence Amblard and Morad Ansari and Annabelle Arlt and Christina Austin-Tse and Sarah Baer and Meena Balasubramanian and Elsa V. Balton and Giulia Barcia and Ana Beleza-Meireles and Jonathan A. Bernstein and Jasmin Beygo and Pierre Blanc and Nuria C. Bramswig and Frederik Braun and Daniel Buchzik and Daniel G. Calame and Jamie Campbell and Charles Coutton and Chloe A. Cunningham and Nitsuh Dargie and Christel Depienne and Katrina M. Dipple and Anne Dieux and Abhijit Dixit and Lauren Dreyer and Haowei Du and Salima El Chehadeh and Michael Field and Lisa J. Ewans and Vanessa Geiger and Richard A. Gibbs and Ian Glass and Olivier Grunewald and Paul Gueguen and Tobias B. Haack and Hamza Hadj Abdallah and Radu Harbuz and Ingo Helbig and Judit Horvath and Alexander Hustinx and Bertrand Isidor and Marie-Line Jacquemont and Fraser Jamie and Médéric Jeanne and Riley Kessler and Hannah Klinkhammer and G. Christoph Korenke and Urania Kotzaeridou and Peter Krawitz and Steven Laurie and Richard J. Leventer and Rebecca J. Levy and James R. Lupski and Pierre Marijon and Kaitlin E. McGinnis and Rodrigo Mendez and Olfa Messaoud and Caroline Nava and Mevyn Nizard and Anne O’Donnell-Luria and Melanie C. O’Leary and Simone Olivieri and Amitav Parida and Davut Pehlivan and Anna Jenne Prentice and Jennifer E. Posey and Chloe M. Reuter and Véronique Satre and Caroline Schluth-Bolard and Thomas Smol and Tipu Sultan and John Taylor and Christel Thauvin-Robinet and Julien Thevenon and Eloise Uebergang and Sandra Ueberberg and Catherine Vincent-Delorme and Evangeline Wassmer and Emma Westwood and Matthew T. Wheeler and Elif Yilmaz Gulec and Adeline Vanderver and Arastoo Vossough and Stephan J. Sanders and Siddharth Banka and Gregory M. Findlay and Daniel G. MacArthur and Cas Simons and Nicola Whiffin},
  year = {2026},
  journal = {Nature Genetics},
  doi = {10.1038/s41588-026-02554-6},
  url = {https://doi.org/10.1038/s41588-026-02554-6}
}

RIS

TY  - JOUR
TI  - Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
AU  - Rocio Rius
AU  - Alexander J. M. Blakes
AU  - Yuyang Chen
AU  - Joachim De Jonghe
AU  - François Lecoquierre
AU  - Ruebena Dawes
AU  - Benjamin Cogne
AU  - Hyung Chul Kim
AU  - Javeria R. Alvi
AU  - Florence Amblard
AU  - Morad Ansari
AU  - Annabelle Arlt
AU  - Christina Austin-Tse
AU  - Sarah Baer
AU  - Meena Balasubramanian
AU  - Elsa V. Balton
AU  - Giulia Barcia
AU  - Ana Beleza-Meireles
AU  - Jonathan A. Bernstein
AU  - Jasmin Beygo
AU  - Pierre Blanc
AU  - Nuria C. Bramswig
AU  - Frederik Braun
AU  - Daniel Buchzik
AU  - Daniel G. Calame
AU  - Jamie Campbell
AU  - Charles Coutton
AU  - Chloe A. Cunningham
AU  - Nitsuh Dargie
AU  - Christel Depienne
AU  - Katrina M. Dipple
AU  - Anne Dieux
AU  - Abhijit Dixit
AU  - Lauren Dreyer
AU  - Haowei Du
AU  - Salima El Chehadeh
AU  - Michael Field
AU  - Lisa J. Ewans
AU  - Vanessa Geiger
AU  - Richard A. Gibbs
AU  - Ian Glass
AU  - Olivier Grunewald
AU  - Paul Gueguen
AU  - Tobias B. Haack
AU  - Hamza Hadj Abdallah
AU  - Radu Harbuz
AU  - Ingo Helbig
AU  - Judit Horvath
AU  - Alexander Hustinx
AU  - Bertrand Isidor
AU  - Marie-Line Jacquemont
AU  - Fraser Jamie
AU  - Médéric Jeanne
AU  - Riley Kessler
AU  - Hannah Klinkhammer
AU  - G. Christoph Korenke
AU  - Urania Kotzaeridou
AU  - Peter Krawitz
AU  - Steven Laurie
AU  - Richard J. Leventer
AU  - Rebecca J. Levy
AU  - James R. Lupski
AU  - Pierre Marijon
AU  - Kaitlin E. McGinnis
AU  - Rodrigo Mendez
AU  - Olfa Messaoud
AU  - Caroline Nava
AU  - Mevyn Nizard
AU  - Anne O’Donnell-Luria
AU  - Melanie C. O’Leary
AU  - Simone Olivieri
AU  - Amitav Parida
AU  - Davut Pehlivan
AU  - Anna Jenne Prentice
AU  - Jennifer E. Posey
AU  - Chloe M. Reuter
AU  - Véronique Satre
AU  - Caroline Schluth-Bolard
AU  - Thomas Smol
AU  - Tipu Sultan
AU  - John Taylor
AU  - Christel Thauvin-Robinet
AU  - Julien Thevenon
AU  - Eloise Uebergang
AU  - Sandra Ueberberg
AU  - Catherine Vincent-Delorme
AU  - Evangeline Wassmer
AU  - Emma Westwood
AU  - Matthew T. Wheeler
AU  - Elif Yilmaz Gulec
AU  - Adeline Vanderver
AU  - Arastoo Vossough
AU  - Stephan J. Sanders
AU  - Siddharth Banka
AU  - Gregory M. Findlay
AU  - Daniel G. MacArthur
AU  - Cas Simons
AU  - Nicola Whiffin
PY  - 2026
JO  - Nature Genetics
DO  - 10.1038/s41588-026-02554-6
UR  - https://doi.org/10.1038/s41588-026-02554-6
ER  - 

APA

Rius, R., Blakes, A. J. M., Chen, Y., Jonghe, J. D., Lecoquierre, F., Dawes, R., Cogne, B., Kim, H. C., Alvi, J. R., Amblard, F., Ansari, M., Arlt, A., Austin-Tse, C., Baer, S., Balasubramanian, M., Balton, E. V., Barcia, G., Beleza-Meireles, A., Bernstein, J. A., Beygo, J., Blanc, P., Bramswig, N. C., Braun, F., Buchzik, D., Calame, D. G., Campbell, J., Coutton, C., Cunningham, C. A., Dargie, N., Depienne, C., Dipple, K. M., Dieux, A., Dixit, A., Dreyer, L., Du, H., Chehadeh, S. E., Field, M., Ewans, L. J., Geiger, V., Gibbs, R. A., Glass, I., Grunewald, O., Gueguen, P., Haack, T. B., Abdallah, H. H., Harbuz, R., Helbig, I., Horvath, J., Hustinx, A., Isidor, B., Jacquemont, M., Jamie, F., Jeanne, M., Kessler, R., Klinkhammer, H., Korenke, G. C., Kotzaeridou, U., Krawitz, P., Laurie, S., Leventer, R. J., Levy, R. J., Lupski, J. R., Marijon, P., McGinnis, K. E., Mendez, R., Messaoud, O., Nava, C., Nizard, M., O’Donnell-Luria, A., O’Leary, M. C., Olivieri, S., Parida, A., Pehlivan, D., Prentice, A. J., Posey, J. E., Reuter, C. M., Satre, V., Schluth-Bolard, C., Smol, T., Sultan, T., Taylor, J., Thauvin-Robinet, C., Thevenon, J., Uebergang, E., Ueberberg, S., Vincent-Delorme, C., Wassmer, E., Westwood, E., Wheeler, M. T., Gulec, E. Y., Vanderver, A., Vossough, A., Sanders, S. J., Banka, S., Findlay, G. M., MacArthur, D. G., Simons, C., & Whiffin, N. (2026). Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature Genetics. https://doi.org/10.1038/s41588-026-02554-6