Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

van Oirsouw ASE, Nedbalova P, Hancarova M, Prchal J, Prchalova D, Vlckova M, Bendova S, Monaghan KG, Dyer LM, Chen Y, Carere DA, Te Bogt EAM, Fisher H, Scheuerle AE, Riley S, Jain M, Mu W, Bodurtha JN, van Eerde AM, Stokman MF, Longo N, Balasubramanian M, Spiller M, Costain G, von der Lippe C, Tveten K, Jortveit M, Holla ØL, Isidor B, Cogné B, Glinton KE, Vuocolo B, Sierra RA, Angle B, Bontempo K, Koop K, Rabin R, Pappas J, Staffenberg DA, Joset P, Miny P, Filges I, Alali A, Vitalone K, Rosenfeld JA, Bi W, Bradbrook S, Perrier R, Ramanathan S, Gold JA, Palomares Bralo M, Ángeles Gómez-Cano M, Olney AH, Nielsen S, Ziegler A, Bonneau D, Prouteau C, Bruel AL, Caille-Benigni C, Lambert L, Yu AC, Robin NH, Goodloe D, Fischer J, Porrmann J, Hennig YD, Abou Jamra R, Herman I, Johnson IR, Hérissant L, Jouret G, van Gassen KLI, van Binsbergen E, van der Zwaag B, Kamermans A, Oegema R, Sedlacek Z, Fenckova M, van Jaarsveld RH

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DOI
10.1016/j.gim.2025.101555
Published
2025 Nov
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
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BibTeX

@article{allodium:10.1016/j.gim.2025.101555,
  title = {Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.},
  author = {van Oirsouw ASE and Nedbalova P and Hancarova M and Prchal J and Prchalova D and Vlckova M and Bendova S and Monaghan KG and Dyer LM and Chen Y and Carere DA and Te Bogt EAM and Fisher H and Scheuerle AE and Riley S and Jain M and Mu W and Bodurtha JN and van Eerde AM and Stokman MF and Longo N and Balasubramanian M and Spiller M and Costain G and von der Lippe C and Tveten K and Jortveit M and Holla ØL and Isidor B and Cogné B and Glinton KE and Vuocolo B and Sierra RA and Angle B and Bontempo K and Koop K and Rabin R and Pappas J and Staffenberg DA and Joset P and Miny P and Filges I and Alali A and Vitalone K and Rosenfeld JA and Bi W and Bradbrook S and Perrier R and Ramanathan S and Gold JA and Palomares Bralo M and Ángeles Gómez-Cano M and Olney AH and Nielsen S and Ziegler A and Bonneau D and Prouteau C and Bruel AL and Caille-Benigni C and Lambert L and Yu AC and Robin NH and Goodloe D and Fischer J and Porrmann J and Hennig YD and Abou Jamra R and Herman I and Johnson IR and Hérissant L and Jouret G and van Gassen KLI and van Binsbergen E and van der Zwaag B and Kamermans A and Oegema R and Sedlacek Z and Fenckova M and van Jaarsveld RH},
  year = {2025},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2025.101555},
  url = {https://doi.org/10.1016/j.gim.2025.101555}
}

RIS

TY  - JOUR
TI  - Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
AU  - van Oirsouw ASE
AU  - Nedbalova P
AU  - Hancarova M
AU  - Prchal J
AU  - Prchalova D
AU  - Vlckova M
AU  - Bendova S
AU  - Monaghan KG
AU  - Dyer LM
AU  - Chen Y
AU  - Carere DA
AU  - Te Bogt EAM
AU  - Fisher H
AU  - Scheuerle AE
AU  - Riley S
AU  - Jain M
AU  - Mu W
AU  - Bodurtha JN
AU  - van Eerde AM
AU  - Stokman MF
AU  - Longo N
AU  - Balasubramanian M
AU  - Spiller M
AU  - Costain G
AU  - von der Lippe C
AU  - Tveten K
AU  - Jortveit M
AU  - Holla ØL
AU  - Isidor B
AU  - Cogné B
AU  - Glinton KE
AU  - Vuocolo B
AU  - Sierra RA
AU  - Angle B
AU  - Bontempo K
AU  - Koop K
AU  - Rabin R
AU  - Pappas J
AU  - Staffenberg DA
AU  - Joset P
AU  - Miny P
AU  - Filges I
AU  - Alali A
AU  - Vitalone K
AU  - Rosenfeld JA
AU  - Bi W
AU  - Bradbrook S
AU  - Perrier R
AU  - Ramanathan S
AU  - Gold JA
AU  - Palomares Bralo M
AU  - Ángeles Gómez-Cano M
AU  - Olney AH
AU  - Nielsen S
AU  - Ziegler A
AU  - Bonneau D
AU  - Prouteau C
AU  - Bruel AL
AU  - Caille-Benigni C
AU  - Lambert L
AU  - Yu AC
AU  - Robin NH
AU  - Goodloe D
AU  - Fischer J
AU  - Porrmann J
AU  - Hennig YD
AU  - Abou Jamra R
AU  - Herman I
AU  - Johnson IR
AU  - Hérissant L
AU  - Jouret G
AU  - van Gassen KLI
AU  - van Binsbergen E
AU  - van der Zwaag B
AU  - Kamermans A
AU  - Oegema R
AU  - Sedlacek Z
AU  - Fenckova M
AU  - van Jaarsveld RH
PY  - 2025
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2025.101555
UR  - https://doi.org/10.1016/j.gim.2025.101555
ER  -

APA

ASE, V. O., P, N., M, H., J, P., D, P., M, V., S, B., KG, M., LM, D., Y, C., DA, C., EAM, T. B., H, F., AE, S., S, R., M, J., W, M., JN, B., AM, V. E., MF, S., N, L., M, B., M, S., G, C., C, V. D. L., K, T., M, J., ØL, H., B, I., B, C., KE, G., B, V., RA, S., B, A., K, B., K, K., R, R., J, P., DA, S., P, J., P, M., I, F., A, A., K, V., JA, R., W, B., S, B., R, P., S, R., JA, G., M, P. B., M, Á. G., AH, O., S, N., A, Z., D, B., C, P., AL, B., C, C., L, L., AC, Y., NH, R., D, G., J, F., J, P., YD, H., R, A. J., I, H., IR, J., L, H., G, J., KLI, V. G., E, V. B., B, V. D. Z., A, K., R, O., Z, S., M, F., & RH, V. J. (2025). Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101555

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