Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Mirzaa GM, Yan K, Relator R, Levesque M, Jayasinghe P, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan KG, Guillen Sacoto MJ, Dobyns WB, Park KL, Fernández-Mayoralas DM, Fernández-Jaén A, Jayakar P, Palomares-Bralo M, Santos-Simarro F, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Štěrbová K, Smal N, Weckhuysen S, Oegema R, Innes AM, Koboldt DC, Ben-Omran T, Yeh RC, Kruer MC, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci SA, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald KA, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B, Picketts DJ

Open source

DOI
10.1038/s41467-025-64838-5
Published
2025 Nov 10
Container
Nature communications
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/s41467-025-64838-5,
  title = {Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.},
  author = {Mirzaa GM and Yan K and Relator R and Levesque M and Jayasinghe P and Timpano S and Yalcin B and Collins S and Ziegler A and Pao E and Oyama N and Brischoux-Boucher E and Piard J and Monaghan KG and Guillen Sacoto MJ and Dobyns WB and Park KL and Fernández-Mayoralas DM and Fernández-Jaén A and Jayakar P and Palomares-Bralo M and Santos-Simarro F and Brusco A and Antona V and Giorgio E and Kvarnung M and Isidor B and Conrad S and Cogné B and Deb W and Stuurman KE and Štěrbová K and Smal N and Weckhuysen S and Oegema R and Innes AM and Koboldt DC and Ben-Omran T and Yeh RC and Kruer MC and Bakhtiari S and Papavasiliou A and Moutton S and Nambot S and Chanprasert S and Paolucci SA and Miller K and Burton B and Kim K and O'Heir E and Bruwer Z and Donald KA and Kleefstra T and Goldstein A and Angle B and Bontempo K and Miny P and Joset P and Demurger F and Hobson E and Pang L and Carpenter L and Li D and Bonneau D and Sadikovic B and Picketts DJ},
  year = {2025},
  journal = {Nature communications},
  doi = {10.1038/s41467-025-64838-5},
  url = {https://doi.org/10.1038/s41467-025-64838-5}
}

RIS

TY  - JOUR
TI  - Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
AU  - Mirzaa GM
AU  - Yan K
AU  - Relator R
AU  - Levesque M
AU  - Jayasinghe P
AU  - Timpano S
AU  - Yalcin B
AU  - Collins S
AU  - Ziegler A
AU  - Pao E
AU  - Oyama N
AU  - Brischoux-Boucher E
AU  - Piard J
AU  - Monaghan KG
AU  - Guillen Sacoto MJ
AU  - Dobyns WB
AU  - Park KL
AU  - Fernández-Mayoralas DM
AU  - Fernández-Jaén A
AU  - Jayakar P
AU  - Palomares-Bralo M
AU  - Santos-Simarro F
AU  - Brusco A
AU  - Antona V
AU  - Giorgio E
AU  - Kvarnung M
AU  - Isidor B
AU  - Conrad S
AU  - Cogné B
AU  - Deb W
AU  - Stuurman KE
AU  - Štěrbová K
AU  - Smal N
AU  - Weckhuysen S
AU  - Oegema R
AU  - Innes AM
AU  - Koboldt DC
AU  - Ben-Omran T
AU  - Yeh RC
AU  - Kruer MC
AU  - Bakhtiari S
AU  - Papavasiliou A
AU  - Moutton S
AU  - Nambot S
AU  - Chanprasert S
AU  - Paolucci SA
AU  - Miller K
AU  - Burton B
AU  - Kim K
AU  - O'Heir E
AU  - Bruwer Z
AU  - Donald KA
AU  - Kleefstra T
AU  - Goldstein A
AU  - Angle B
AU  - Bontempo K
AU  - Miny P
AU  - Joset P
AU  - Demurger F
AU  - Hobson E
AU  - Pang L
AU  - Carpenter L
AU  - Li D
AU  - Bonneau D
AU  - Sadikovic B
AU  - Picketts DJ
PY  - 2025
JO  - Nature communications
DO  - 10.1038/s41467-025-64838-5
UR  - https://doi.org/10.1038/s41467-025-64838-5
ER  -

APA

GM, M., K, Y., R, R., M, L., P, J., S, T., B, Y., S, C., A, Z., E, P., N, O., E, B., J, P., KG, M., MJ, G. S., WB, D., KL, P., DM, F., A, F., P, J., M, P., F, S., A, B., V, A., E, G., M, K., B, I., S, C., B, C., W, D., KE, S., K, Š., N, S., S, W., R, O., AM, I., DC, K., T, B., RC, Y., MC, K., S, B., A, P., S, M., S, N., S, C., SA, P., K, M., B, B., K, K., E, O., Z, B., KA, D., T, K., A, G., B, A., K, B., P, M., P, J., F, D., E, H., L, P., L, C., D, L., D, B., B, S., & DJ, P. (2025). Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.. Nature communications. https://doi.org/10.1038/s41467-025-64838-5

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