De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Uguen K, Bergot T, Scott-Boyer MP, Chapalain S, Desdouets C, Commet S, Zhu C, Xu Y, Wang Y, Roscioli T, Tran-Mau-Them F, Faivre L, Maraval J, Delanne J, Denommé-Pichon AS, Vitobello A, Jost C, Planes M, Hiatt S, Wheeler P, Gonzaga-Jauregui C, Wang H, Xin B, Sency V, Kruer MC, Bakhtiari S, Sulem P, Curry C, Prescott T, Strobl-Wildemann G, Brunet T, Doco Fenzy M, Courtin T, Poirsier C, Bjørg Hammer T, Fenger CD, MacPherson M, Izumi K, Leonard J, Li D, Zackai EH, Glass IA, Ward S, Campeau PM, Borroto MCH, Le Moigno L, Van Esch H, De Waele L, Calame DG, Lupski JR, Barcia G, Peduto C, Planté-Bordeneuve P, Dupuis L, Mendoza-Londono R, Stavropoulos DJ, Gillibert-Duplantier J, Besnard T, Do Souto Ferreira L, Cogné B, Bézieau S, Droit A, Corcos L, Lippert E, Férec C, Küry S, Bernard DG

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DOI
10.1038/s41467-026-68284-9
Published
2026 Jan 23
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-026-68284-9,
  title = {De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.},
  author = {Uguen K and Bergot T and Scott-Boyer MP and Chapalain S and Desdouets C and Commet S and Zhu C and Xu Y and Wang Y and Roscioli T and Tran-Mau-Them F and Faivre L and Maraval J and Delanne J and Denommé-Pichon AS and Vitobello A and Jost C and Planes M and Hiatt S and Wheeler P and Gonzaga-Jauregui C and Wang H and Xin B and Sency V and Kruer MC and Bakhtiari S and Sulem P and Curry C and Prescott T and Strobl-Wildemann G and Brunet T and Doco Fenzy M and Courtin T and Poirsier C and Bjørg Hammer T and Fenger CD and MacPherson M and Izumi K and Leonard J and Li D and Zackai EH and Glass IA and Ward S and Campeau PM and Borroto MCH and Le Moigno L and Van Esch H and De Waele L and Calame DG and Lupski JR and Barcia G and Peduto C and Planté-Bordeneuve P and Dupuis L and Mendoza-Londono R and Stavropoulos DJ and Gillibert-Duplantier J and Besnard T and Do Souto Ferreira L and Cogné B and Bézieau S and Droit A and Corcos L and Lippert E and Férec C and Küry S and Bernard DG},
  year = {2026},
  journal = {Nature communications},
  doi = {10.1038/s41467-026-68284-9},
  url = {https://doi.org/10.1038/s41467-026-68284-9}
}

RIS

TY  - JOUR
TI  - De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
AU  - Uguen K
AU  - Bergot T
AU  - Scott-Boyer MP
AU  - Chapalain S
AU  - Desdouets C
AU  - Commet S
AU  - Zhu C
AU  - Xu Y
AU  - Wang Y
AU  - Roscioli T
AU  - Tran-Mau-Them F
AU  - Faivre L
AU  - Maraval J
AU  - Delanne J
AU  - Denommé-Pichon AS
AU  - Vitobello A
AU  - Jost C
AU  - Planes M
AU  - Hiatt S
AU  - Wheeler P
AU  - Gonzaga-Jauregui C
AU  - Wang H
AU  - Xin B
AU  - Sency V
AU  - Kruer MC
AU  - Bakhtiari S
AU  - Sulem P
AU  - Curry C
AU  - Prescott T
AU  - Strobl-Wildemann G
AU  - Brunet T
AU  - Doco Fenzy M
AU  - Courtin T
AU  - Poirsier C
AU  - Bjørg Hammer T
AU  - Fenger CD
AU  - MacPherson M
AU  - Izumi K
AU  - Leonard J
AU  - Li D
AU  - Zackai EH
AU  - Glass IA
AU  - Ward S
AU  - Campeau PM
AU  - Borroto MCH
AU  - Le Moigno L
AU  - Van Esch H
AU  - De Waele L
AU  - Calame DG
AU  - Lupski JR
AU  - Barcia G
AU  - Peduto C
AU  - Planté-Bordeneuve P
AU  - Dupuis L
AU  - Mendoza-Londono R
AU  - Stavropoulos DJ
AU  - Gillibert-Duplantier J
AU  - Besnard T
AU  - Do Souto Ferreira L
AU  - Cogné B
AU  - Bézieau S
AU  - Droit A
AU  - Corcos L
AU  - Lippert E
AU  - Férec C
AU  - Küry S
AU  - Bernard DG
PY  - 2026
JO  - Nature communications
DO  - 10.1038/s41467-026-68284-9
UR  - https://doi.org/10.1038/s41467-026-68284-9
ER  -

APA

K, U., T, B., MP, S., S, C., C, D., S, C., C, Z., Y, X., Y, W., T, R., F, T., L, F., J, M., J, D., AS, D., A, V., C, J., M, P., S, H., P, W., C, G., H, W., B, X., V, S., MC, K., S, B., P, S., C, C., T, P., G, S., T, B., M, D. F., T, C., C, P., T, B. H., CD, F., M, M., K, I., J, L., D, L., EH, Z., IA, G., S, W., PM, C., MCH, B., L, L. M., H, V. E., L, D. W., DG, C., JR, L., G, B., C, P., P, P., L, D., R, M., DJ, S., J, G., T, B., L, D. S. F., B, C., S, B., A, D., L, C., E, L., C, F., S, K., & DG, B. (2026). De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.. Nature communications. https://doi.org/10.1038/s41467-026-68284-9

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