Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Efthymiou S, Leo CP, Deng C, Lin SJ, Maroofian R, Lin R, Karagoz I, Zhang K, Kaiyrzhanov R, Scardamaglia A, Owrang D, Turchetti V, Jahnke F, Huang K, Petree C, Derrick AV, Rees MI, Alvi JR, Sultan T, Li C, Jacquemont ML, Tran-Mau-Them F, Valenzuela-Palafoll M, Sidlow R, Yoon G, Morrow MM, Carere DA, O'Connor M, Fleischer J, Gerkes EH, Phornphutkul C, Isidor B, Rivier-Ringenbach C, Philippe C, Kurul SH, Soydemir D, Kara B, Sunnetci-Akkoyunlu D, Bothe V, Platzer K, Wieczorek D, Koch-Hogrebe M, Rahner N, Thuresson AC, Matsson H, Frykholm C, Bozdoğan ST, Bisgin A, Chatron N, Lesca G, Cabet S, Tümer Z, Hjortshøj TD, Rønde G, Marquardt T, Reunert J, Afzal E, Zamani M, Azizimalamiri R, Galehdari H, Nourbakhsh P, Chamanrou N, Chung SK, Suri M, Benke PJ, Zaki MS, Gleeson JG, Calame DG, Pehlivan D, Yilmaz HI, Gezdirici A, Rad A, Abumansour IS, Oprea G, Bereketoğlu MB, Banneau G, Julia S, Zeighami J, Ashoori S, Shariati G, Sedaghat A, Sabri A, Hamid M, Parvas S, Tajudin TA, Abdullah U, Baig SM, Chung WK, Glazunova OO, Sabine S, Cheema HA, Zifarelli G, Bauer P, Sidpra J, Mankad K, Vona B, Fry AE, Varshney GK, Houlden H, Fu D

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DOI: 10.1016/j.ajhg.2025.03.015
Published: 2025 May 1
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.2025.03.015,
  title = {Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.},
  author = {Efthymiou S and Leo CP and Deng C and Lin SJ and Maroofian R and Lin R and Karagoz I and Zhang K and Kaiyrzhanov R and Scardamaglia A and Owrang D and Turchetti V and Jahnke F and Huang K and Petree C and Derrick AV and Rees MI and Alvi JR and Sultan T and Li C and Jacquemont ML and Tran-Mau-Them F and Valenzuela-Palafoll M and Sidlow R and Yoon G and Morrow MM and Carere DA and O'Connor M and Fleischer J and Gerkes EH and Phornphutkul C and Isidor B and Rivier-Ringenbach C and Philippe C and Kurul SH and Soydemir D and Kara B and Sunnetci-Akkoyunlu D and Bothe V and Platzer K and Wieczorek D and Koch-Hogrebe M and Rahner N and Thuresson AC and Matsson H and Frykholm C and Bozdoğan ST and Bisgin A and Chatron N and Lesca G and Cabet S and Tümer Z and Hjortshøj TD and Rønde G and Marquardt T and Reunert J and Afzal E and Zamani M and Azizimalamiri R and Galehdari H and Nourbakhsh P and Chamanrou N and Chung SK and Suri M and Benke PJ and Zaki MS and Gleeson JG and Calame DG and Pehlivan D and Yilmaz HI and Gezdirici A and Rad A and Abumansour IS and Oprea G and Bereketoğlu MB and Banneau G and Julia S and Zeighami J and Ashoori S and Shariati G and Sedaghat A and Sabri A and Hamid M and Parvas S and Tajudin TA and Abdullah U and Baig SM and Chung WK and Glazunova OO and Sabine S and Cheema HA and Zifarelli G and Bauer P and Sidpra J and Mankad K and Vona B and Fry AE and Varshney GK and Houlden H and Fu D},
  year = {2025},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2025.03.015},
  url = {https://doi.org/10.1016/j.ajhg.2025.03.015}
}

RIS

TY  - JOUR
TI  - Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
AU  - Efthymiou S
AU  - Leo CP
AU  - Deng C
AU  - Lin SJ
AU  - Maroofian R
AU  - Lin R
AU  - Karagoz I
AU  - Zhang K
AU  - Kaiyrzhanov R
AU  - Scardamaglia A
AU  - Owrang D
AU  - Turchetti V
AU  - Jahnke F
AU  - Huang K
AU  - Petree C
AU  - Derrick AV
AU  - Rees MI
AU  - Alvi JR
AU  - Sultan T
AU  - Li C
AU  - Jacquemont ML
AU  - Tran-Mau-Them F
AU  - Valenzuela-Palafoll M
AU  - Sidlow R
AU  - Yoon G
AU  - Morrow MM
AU  - Carere DA
AU  - O'Connor M
AU  - Fleischer J
AU  - Gerkes EH
AU  - Phornphutkul C
AU  - Isidor B
AU  - Rivier-Ringenbach C
AU  - Philippe C
AU  - Kurul SH
AU  - Soydemir D
AU  - Kara B
AU  - Sunnetci-Akkoyunlu D
AU  - Bothe V
AU  - Platzer K
AU  - Wieczorek D
AU  - Koch-Hogrebe M
AU  - Rahner N
AU  - Thuresson AC
AU  - Matsson H
AU  - Frykholm C
AU  - Bozdoğan ST
AU  - Bisgin A
AU  - Chatron N
AU  - Lesca G
AU  - Cabet S
AU  - Tümer Z
AU  - Hjortshøj TD
AU  - Rønde G
AU  - Marquardt T
AU  - Reunert J
AU  - Afzal E
AU  - Zamani M
AU  - Azizimalamiri R
AU  - Galehdari H
AU  - Nourbakhsh P
AU  - Chamanrou N
AU  - Chung SK
AU  - Suri M
AU  - Benke PJ
AU  - Zaki MS
AU  - Gleeson JG
AU  - Calame DG
AU  - Pehlivan D
AU  - Yilmaz HI
AU  - Gezdirici A
AU  - Rad A
AU  - Abumansour IS
AU  - Oprea G
AU  - Bereketoğlu MB
AU  - Banneau G
AU  - Julia S
AU  - Zeighami J
AU  - Ashoori S
AU  - Shariati G
AU  - Sedaghat A
AU  - Sabri A
AU  - Hamid M
AU  - Parvas S
AU  - Tajudin TA
AU  - Abdullah U
AU  - Baig SM
AU  - Chung WK
AU  - Glazunova OO
AU  - Sabine S
AU  - Cheema HA
AU  - Zifarelli G
AU  - Bauer P
AU  - Sidpra J
AU  - Mankad K
AU  - Vona B
AU  - Fry AE
AU  - Varshney GK
AU  - Houlden H
AU  - Fu D
PY  - 2025
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2025.03.015
UR  - https://doi.org/10.1016/j.ajhg.2025.03.015
ER  -

APA

S, E., CP, L., C, D., SJ, L., R, M., R, L., I, K., K, Z., R, K., A, S., D, O., V, T., F, J., K, H., C, P., AV, D., MI, R., JR, A., T, S., C, L., ML, J., F, T., M, V., R, S., G, Y., MM, M., DA, C., M, O., J, F., EH, G., C, P., B, I., C, R., C, P., SH, K., D, S., B, K., D, S., V, B., K, P., D, W., M, K., N, R., AC, T., H, M., C, F., ST, B., A, B., N, C., G, L., S, C., Z, T., TD, H., G, R., T, M., J, R., E, A., M, Z., R, A., H, G., P, N., N, C., SK, C., M, S., PJ, B., MS, Z., JG, G., DG, C., D, P., HI, Y., A, G., A, R., IS, A., G, O., MB, B., G, B., S, J., J, Z., S, A., G, S., A, S., A, S., M, H., S, P., TA, T., U, A., SM, B., WK, C., OO, G., S, S., HA, C., G, Z., P, B., J, S., K, M., B, V., AE, F., GK, V., H, H., & D, F. (2025). Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2025.03.015

Source records

pubmed · retrieved 2026-09-25T13:58:16.532Z