Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, Parker M, Park SM, Mendes AC, Saraiva JM, Hammer TB, Nazaryan-Petersen L, Barakat TS, Wilke M, Bhoj E, Ahrens-Nicklas RC, Li D, Nomakuchi T, Brilstra EH, Hunt D, Johnson D, Mansour S, Oprych K, Mehta SG, Platzer K, Schnabel F, Kiep H, Faust H, Prinzing G, Wiltrout K, Radley JA, Serrano Russi AH, Atallah I, Campos-Xavier B, Amor DJ, Morgan AT, Fagerberg C, Andersen UA, Andersen CB, Bijlsma EK, Bird LM, Mullegama SV, Green A, Isidor B, Cogné B, Kenny J, Lynch SA, Quin S, Low K, Herget T, Kortüm F, Levy RJ, Morrison JL, Wheeler PG, Narumanch T, Peron K, Matthews N, Uhlman J, Bell L, Pang L, Scurr I, Belles RS, Salbert BA, Schaefer GB, Green S, Ros A, Rodríguez-Palmero A, Višnjar T, Writzl K, Vasudevan PC, Balasubramanian M

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DOI
10.1016/j.gim.2024.101348
Published
2025 Mar
Container
Genetics in medicine : official journal of the American College of Medical Genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1016/j.gim.2024.101348,
  title = {Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.},
  author = {Elkhateeb N and Crookes R and Spiller M and Pavinato L and Palermo F and Brusco A and Parker M and Park SM and Mendes AC and Saraiva JM and Hammer TB and Nazaryan-Petersen L and Barakat TS and Wilke M and Bhoj E and Ahrens-Nicklas RC and Li D and Nomakuchi T and Brilstra EH and Hunt D and Johnson D and Mansour S and Oprych K and Mehta SG and Platzer K and Schnabel F and Kiep H and Faust H and Prinzing G and Wiltrout K and Radley JA and Serrano Russi AH and Atallah I and Campos-Xavier B and Amor DJ and Morgan AT and Fagerberg C and Andersen UA and Andersen CB and Bijlsma EK and Bird LM and Mullegama SV and Green A and Isidor B and Cogné B and Kenny J and Lynch SA and Quin S and Low K and Herget T and Kortüm F and Levy RJ and Morrison JL and Wheeler PG and Narumanch T and Peron K and Matthews N and Uhlman J and Bell L and Pang L and Scurr I and Belles RS and Salbert BA and Schaefer GB and Green S and Ros A and Rodríguez-Palmero A and Višnjar T and Writzl K and Vasudevan PC and Balasubramanian M},
  year = {2025},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2024.101348},
  url = {https://doi.org/10.1016/j.gim.2024.101348}
}

RIS

TY  - JOUR
TI  - Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
AU  - Elkhateeb N
AU  - Crookes R
AU  - Spiller M
AU  - Pavinato L
AU  - Palermo F
AU  - Brusco A
AU  - Parker M
AU  - Park SM
AU  - Mendes AC
AU  - Saraiva JM
AU  - Hammer TB
AU  - Nazaryan-Petersen L
AU  - Barakat TS
AU  - Wilke M
AU  - Bhoj E
AU  - Ahrens-Nicklas RC
AU  - Li D
AU  - Nomakuchi T
AU  - Brilstra EH
AU  - Hunt D
AU  - Johnson D
AU  - Mansour S
AU  - Oprych K
AU  - Mehta SG
AU  - Platzer K
AU  - Schnabel F
AU  - Kiep H
AU  - Faust H
AU  - Prinzing G
AU  - Wiltrout K
AU  - Radley JA
AU  - Serrano Russi AH
AU  - Atallah I
AU  - Campos-Xavier B
AU  - Amor DJ
AU  - Morgan AT
AU  - Fagerberg C
AU  - Andersen UA
AU  - Andersen CB
AU  - Bijlsma EK
AU  - Bird LM
AU  - Mullegama SV
AU  - Green A
AU  - Isidor B
AU  - Cogné B
AU  - Kenny J
AU  - Lynch SA
AU  - Quin S
AU  - Low K
AU  - Herget T
AU  - Kortüm F
AU  - Levy RJ
AU  - Morrison JL
AU  - Wheeler PG
AU  - Narumanch T
AU  - Peron K
AU  - Matthews N
AU  - Uhlman J
AU  - Bell L
AU  - Pang L
AU  - Scurr I
AU  - Belles RS
AU  - Salbert BA
AU  - Schaefer GB
AU  - Green S
AU  - Ros A
AU  - Rodríguez-Palmero A
AU  - Višnjar T
AU  - Writzl K
AU  - Vasudevan PC
AU  - Balasubramanian M
PY  - 2025
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2024.101348
UR  - https://doi.org/10.1016/j.gim.2024.101348
ER  -

APA

N, E., R, C., M, S., L, P., F, P., A, B., M, P., SM, P., AC, M., JM, S., TB, H., L, N., TS, B., M, W., E, B., RC, A., D, L., T, N., EH, B., D, H., D, J., S, M., K, O., SG, M., K, P., F, S., H, K., H, F., G, P., K, W., JA, R., AH, S. R., I, A., B, C., DJ, A., AT, M., C, F., UA, A., CB, A., EK, B., LM, B., SV, M., A, G., B, I., B, C., J, K., SA, L., S, Q., K, L., T, H., F, K., RJ, L., JL, M., PG, W., T, N., K, P., N, M., J, U., L, B., L, P., I, S., RS, B., BA, S., GB, S., S, G., A, R., A, R., T, V., K, W., PC, V., & M, B. (2025). Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2024.101348

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