Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Serpieri V, Vezain-Mouchard M, Orsi A, Lecointre M, Mazzotta C, Marguet F, Garbelli A, Marcorelles P, Celli L, Goldenberg A, De Mori R, Drouot N, Petrizzelli F, Janin F, Nicolas G, Smal N, Condoluci C, Marini C, Tran-Mau-Them F, Ruault V, Micalizzi A, Bione S, Mazza T, Pichiecchio A, Ginevrino M, Weckhuysen S, Bedois A, Desnous B, Hermitte L, Rabie G, Kanaan M, Gonzalez BJ, Sabbioneda S, Laquerrière A, Saugier-Veber P, Valente EM

Open source

DOI: 10.1016/j.ajhg.2026.01.014
Published: 2026 Mar 5
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.01.014,
  title = {Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.},
  author = {Serpieri V and Vezain-Mouchard M and Orsi A and Lecointre M and Mazzotta C and Marguet F and Garbelli A and Marcorelles P and Celli L and Goldenberg A and De Mori R and Drouot N and Petrizzelli F and Janin F and Nicolas G and Smal N and Condoluci C and Marini C and Tran-Mau-Them F and Ruault V and Micalizzi A and Bione S and Mazza T and Pichiecchio A and Ginevrino M and Weckhuysen S and Bedois A and Desnous B and Hermitte L and Rabie G and Kanaan M and Gonzalez BJ and Sabbioneda S and Laquerrière A and Saugier-Veber P and Valente EM},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.01.014},
  url = {https://doi.org/10.1016/j.ajhg.2026.01.014}
}

RIS

TY  - JOUR
TI  - Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
AU  - Serpieri V
AU  - Vezain-Mouchard M
AU  - Orsi A
AU  - Lecointre M
AU  - Mazzotta C
AU  - Marguet F
AU  - Garbelli A
AU  - Marcorelles P
AU  - Celli L
AU  - Goldenberg A
AU  - De Mori R
AU  - Drouot N
AU  - Petrizzelli F
AU  - Janin F
AU  - Nicolas G
AU  - Smal N
AU  - Condoluci C
AU  - Marini C
AU  - Tran-Mau-Them F
AU  - Ruault V
AU  - Micalizzi A
AU  - Bione S
AU  - Mazza T
AU  - Pichiecchio A
AU  - Ginevrino M
AU  - Weckhuysen S
AU  - Bedois A
AU  - Desnous B
AU  - Hermitte L
AU  - Rabie G
AU  - Kanaan M
AU  - Gonzalez BJ
AU  - Sabbioneda S
AU  - Laquerrière A
AU  - Saugier-Veber P
AU  - Valente EM
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.01.014
UR  - https://doi.org/10.1016/j.ajhg.2026.01.014
ER  -

APA

V, S., M, V., A, O., M, L., C, M., F, M., A, G., P, M., L, C., A, G., R, D. M., N, D., F, P., F, J., G, N., N, S., C, C., C, M., F, T., V, R., A, M., S, B., T, M., A, P., M, G., S, W., A, B., B, D., L, H., G, R., M, K., BJ, G., S, S., A, L., P, S., & EM, V. (2026). Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.01.014

Source records

pubmed · retrieved 2026-11-10T13:54:30.701Z