A novel spliceosomopathy caused by de novo SF3B3 variants.

Musante L, Janos P, Pianigiani G, Cappelli S, Longo A, Alves C, Schwaibold EM, Wagner M, Costain G, Fridriksdottir R, Stefansson K, Sulem P, Lichtenbelt KD, van Binsbergen E, van Jaarsveld RH, Brusco A, Pavinato L, Biamino E, Spano A, Hildebrandt CC, Chan YM, Groopman E, Berkenstadt M, Koboldt D, Williamson R, Brunner HG, Vissers LE, Torring PM, Hao Q, Gelb BD, Goldmuntz E, Reed K, Bedoukian EC, Vecchio D, Salzano E, Piccione M, Zanus C, Mio C, Eichler EE, Wang T, Patterson WG, Butler KM, Piotrowski M, Mercier S, Cogné B, Wentzensen IM, Buratti E, Magistrato A, Faletra F

Open source

DOI
10.1186/s13073-026-01610-4
Published
2026 Feb 19
Container
Genome medicine
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1186/s13073-026-01610-4,
  title = {A novel spliceosomopathy caused by de novo SF3B3 variants.},
  author = {Musante L and Janos P and Pianigiani G and Cappelli S and Longo A and Alves C and Schwaibold EM and Wagner M and Costain G and Fridriksdottir R and Stefansson K and Sulem P and Lichtenbelt KD and van Binsbergen E and van Jaarsveld RH and Brusco A and Pavinato L and Biamino E and Spano A and Hildebrandt CC and Chan YM and Groopman E and Berkenstadt M and Koboldt D and Williamson R and Brunner HG and Vissers LE and Torring PM and Hao Q and Gelb BD and Goldmuntz E and Reed K and Bedoukian EC and Vecchio D and Salzano E and Piccione M and Zanus C and Mio C and Eichler EE and Wang T and Patterson WG and Butler KM and Piotrowski M and Mercier S and Cogné B and Wentzensen IM and Buratti E and Magistrato A and Faletra F},
  year = {2026},
  journal = {Genome medicine},
  doi = {10.1186/s13073-026-01610-4},
  url = {https://doi.org/10.1186/s13073-026-01610-4}
}

RIS

TY  - JOUR
TI  - A novel spliceosomopathy caused by de novo SF3B3 variants.
AU  - Musante L
AU  - Janos P
AU  - Pianigiani G
AU  - Cappelli S
AU  - Longo A
AU  - Alves C
AU  - Schwaibold EM
AU  - Wagner M
AU  - Costain G
AU  - Fridriksdottir R
AU  - Stefansson K
AU  - Sulem P
AU  - Lichtenbelt KD
AU  - van Binsbergen E
AU  - van Jaarsveld RH
AU  - Brusco A
AU  - Pavinato L
AU  - Biamino E
AU  - Spano A
AU  - Hildebrandt CC
AU  - Chan YM
AU  - Groopman E
AU  - Berkenstadt M
AU  - Koboldt D
AU  - Williamson R
AU  - Brunner HG
AU  - Vissers LE
AU  - Torring PM
AU  - Hao Q
AU  - Gelb BD
AU  - Goldmuntz E
AU  - Reed K
AU  - Bedoukian EC
AU  - Vecchio D
AU  - Salzano E
AU  - Piccione M
AU  - Zanus C
AU  - Mio C
AU  - Eichler EE
AU  - Wang T
AU  - Patterson WG
AU  - Butler KM
AU  - Piotrowski M
AU  - Mercier S
AU  - Cogné B
AU  - Wentzensen IM
AU  - Buratti E
AU  - Magistrato A
AU  - Faletra F
PY  - 2026
JO  - Genome medicine
DO  - 10.1186/s13073-026-01610-4
UR  - https://doi.org/10.1186/s13073-026-01610-4
ER  -

APA

L, M., P, J., G, P., S, C., A, L., C, A., EM, S., M, W., G, C., R, F., K, S., P, S., KD, L., E, V. B., RH, V. J., A, B., L, P., E, B., A, S., CC, H., YM, C., E, G., M, B., D, K., R, W., HG, B., LE, V., PM, T., Q, H., BD, G., E, G., K, R., EC, B., D, V., E, S., M, P., C, Z., C, M., EE, E., T, W., WG, P., KM, B., M, P., S, M., B, C., IM, W., E, B., A, M., & F, F. (2026). A novel spliceosomopathy caused by de novo SF3B3 variants.. Genome medicine. https://doi.org/10.1186/s13073-026-01610-4

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