Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

Kumar R, Gardner A, Bhattacharjee R, Agarwala S, van Eyk CL, Corbett MA, Carroll R, Kroes T, Ritchie T, de Nys R, Mazurkiewicz D, Bing W, Palmer EE, Field M, Verseput JJA, de Vries BBA, Dingemans AJM, Zhang Q, Li F, Bernier F, Lauzon J, Śmigiel R, Ortigoza-Escobar JD, García-Cazorla A, Darling A, Boerkoel CF, Huynh S, Costain G, van Ham TJ, Kasteleijn E, van Slegtenhorst M, Barakat TS, Elgersma Y, van Ierland Y, Veenma D, Azmanov D, Weisman AG, Prada CE, Parkash S, Rideout AL, Kerstjens-Frederikse WS, Vengoechea J, Schoene-Bake JC, Devillard F, van der Smagt J, Giesbertz NAA, Fry AE, Jezkova J, Kampmeier A, Kuechler A, Grasshoff U, Bertrand M, Hickey SE, Hunter JM, Marr MV, Dupont J, Bigoni S, Ferlini A, Selvatici R, Chatron N, Lesca G, Januel L, Rossi M, Rogers C, Davis JM, McKenzie F, Marbach F, Gieldon L, Schmidt WM, Paquay A, Bittner RE, Mahal S, Bernert G, Sinnerbrink I, Goodwin L, Cooper S, Bannink N, Jolly LA, McGaughran J, Bosman A, Hernan R, Chung WK, Valenzuela I, Cuscó I, Schlüter A, Pujol A, Pérez-Jurado LA, Gecz J

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DOI
10.1016/j.gim.2026.102734
Published
2026 Sep 24
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.2026.102734,
  title = {Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.},
  author = {Kumar R and Gardner A and Bhattacharjee R and Agarwala S and van Eyk CL and Corbett MA and Carroll R and Kroes T and Ritchie T and de Nys R and Mazurkiewicz D and Bing W and Palmer EE and Field M and Verseput JJA and de Vries BBA and Dingemans AJM and Zhang Q and Li F and Bernier F and Lauzon J and Śmigiel R and Ortigoza-Escobar JD and García-Cazorla A and Darling A and Boerkoel CF and Huynh S and Costain G and van Ham TJ and Kasteleijn E and van Slegtenhorst M and Barakat TS and Elgersma Y and van Ierland Y and Veenma D and Azmanov D and Weisman AG and Prada CE and Parkash S and Rideout AL and Kerstjens-Frederikse WS and Vengoechea J and Schoene-Bake JC and Devillard F and van der Smagt J and Giesbertz NAA and Fry AE and Jezkova J and Kampmeier A and Kuechler A and Grasshoff U and Bertrand M and Hickey SE and Hunter JM and Marr MV and Dupont J and Bigoni S and Ferlini A and Selvatici R and Chatron N and Lesca G and Januel L and Rossi M and Rogers C and Davis JM and McKenzie F and Marbach F and Gieldon L and Schmidt WM and Paquay A and Bittner RE and Mahal S and Bernert G and Sinnerbrink I and Goodwin L and Cooper S and Bannink N and Jolly LA and McGaughran J and Bosman A and Hernan R and Chung WK and Valenzuela I and Cuscó I and Schlüter A and Pujol A and Pérez-Jurado LA and Gecz J},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2026.102734},
  url = {https://doi.org/10.1016/j.gim.2026.102734}
}

RIS

TY  - JOUR
TI  - Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.
AU  - Kumar R
AU  - Gardner A
AU  - Bhattacharjee R
AU  - Agarwala S
AU  - van Eyk CL
AU  - Corbett MA
AU  - Carroll R
AU  - Kroes T
AU  - Ritchie T
AU  - de Nys R
AU  - Mazurkiewicz D
AU  - Bing W
AU  - Palmer EE
AU  - Field M
AU  - Verseput JJA
AU  - de Vries BBA
AU  - Dingemans AJM
AU  - Zhang Q
AU  - Li F
AU  - Bernier F
AU  - Lauzon J
AU  - Śmigiel R
AU  - Ortigoza-Escobar JD
AU  - García-Cazorla A
AU  - Darling A
AU  - Boerkoel CF
AU  - Huynh S
AU  - Costain G
AU  - van Ham TJ
AU  - Kasteleijn E
AU  - van Slegtenhorst M
AU  - Barakat TS
AU  - Elgersma Y
AU  - van Ierland Y
AU  - Veenma D
AU  - Azmanov D
AU  - Weisman AG
AU  - Prada CE
AU  - Parkash S
AU  - Rideout AL
AU  - Kerstjens-Frederikse WS
AU  - Vengoechea J
AU  - Schoene-Bake JC
AU  - Devillard F
AU  - van der Smagt J
AU  - Giesbertz NAA
AU  - Fry AE
AU  - Jezkova J
AU  - Kampmeier A
AU  - Kuechler A
AU  - Grasshoff U
AU  - Bertrand M
AU  - Hickey SE
AU  - Hunter JM
AU  - Marr MV
AU  - Dupont J
AU  - Bigoni S
AU  - Ferlini A
AU  - Selvatici R
AU  - Chatron N
AU  - Lesca G
AU  - Januel L
AU  - Rossi M
AU  - Rogers C
AU  - Davis JM
AU  - McKenzie F
AU  - Marbach F
AU  - Gieldon L
AU  - Schmidt WM
AU  - Paquay A
AU  - Bittner RE
AU  - Mahal S
AU  - Bernert G
AU  - Sinnerbrink I
AU  - Goodwin L
AU  - Cooper S
AU  - Bannink N
AU  - Jolly LA
AU  - McGaughran J
AU  - Bosman A
AU  - Hernan R
AU  - Chung WK
AU  - Valenzuela I
AU  - Cuscó I
AU  - Schlüter A
AU  - Pujol A
AU  - Pérez-Jurado LA
AU  - Gecz J
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2026.102734
UR  - https://doi.org/10.1016/j.gim.2026.102734
ER  -

APA

R, K., A, G., R, B., S, A., CL, V. E., MA, C., R, C., T, K., T, R., R, D. N., D, M., W, B., EE, P., M, F., JJA, V., BBA, D. V., AJM, D., Q, Z., F, L., F, B., J, L., R, Ś., JD, O., A, G., A, D., CF, B., S, H., G, C., TJ, V. H., E, K., M, V. S., TS, B., Y, E., Y, V. I., D, V., D, A., AG, W., CE, P., S, P., AL, R., WS, K., J, V., JC, S., F, D., J, V. D. S., NAA, G., AE, F., J, J., A, K., A, K., U, G., M, B., SE, H., JM, H., MV, M., J, D., S, B., A, F., R, S., N, C., G, L., L, J., M, R., C, R., JM, D., F, M., F, M., L, G., WM, S., A, P., RE, B., S, M., G, B., I, S., L, G., S, C., N, B., LA, J., J, M., A, B., R, H., WK, C., I, V., I, C., A, S., A, P., LA, P., & J, G. (2026). Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2026.102734

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