De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K, DDD Study, Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM

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DOI: 10.1016/j.ajhg.2020.05.017
Published: 2020 Jul 2
Container: American journal of human genetics
Publisher: Not recorded
Open access: yes

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BibTeX

@article{allodium:10.1016/j.ajhg.2020.05.017,
  title = {De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.},
  author = {Vissers LELM and Kalvakuri S and de Boer E and Geuer S and Oud M and van Outersterp I and Kwint M and Witmond M and Kersten S and Polla DL and Weijers D and Begtrup A and McWalter K and Ruiz A and Gabau E and Morton JEV and Griffith C and Weiss K and Gamble C and Bartley J and Vernon HJ and Brunet K and Ruivenkamp C and Kant SG and Kruszka P and Larson A and Afenjar A and Billette de Villemeur T and Nugent K and DDD Study and Raymond FL and Venselaar H and Demurger F and Soler-Alfonso C and Li D and Bhoj E and Hayes I and Hamilton NP and Ahmad A and Fisher R and van den Born M and Willems M and Sorlin A and Delanne J and Moutton S and Christophe P and Mau-Them FT and Vitobello A and Goel H and Massingham L and Phornphutkul C and Schwab J and Keren B and Charles P and Vreeburg M and De Simone L and Hoganson G and Iascone M and Milani D and Evenepoel L and Revencu N and Ward DI and Burns K and Krantz I and Raible SE and Murrell JR and Wood K and Cho MT and van Bokhoven H and Muenke M and Kleefstra T and Bodmer R and de Brouwer APM},
  year = {2020},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2020.05.017},
  url = {https://doi.org/10.1016/j.ajhg.2020.05.017}
}

RIS

TY  - JOUR
TI  - De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
AU  - Vissers LELM
AU  - Kalvakuri S
AU  - de Boer E
AU  - Geuer S
AU  - Oud M
AU  - van Outersterp I
AU  - Kwint M
AU  - Witmond M
AU  - Kersten S
AU  - Polla DL
AU  - Weijers D
AU  - Begtrup A
AU  - McWalter K
AU  - Ruiz A
AU  - Gabau E
AU  - Morton JEV
AU  - Griffith C
AU  - Weiss K
AU  - Gamble C
AU  - Bartley J
AU  - Vernon HJ
AU  - Brunet K
AU  - Ruivenkamp C
AU  - Kant SG
AU  - Kruszka P
AU  - Larson A
AU  - Afenjar A
AU  - Billette de Villemeur T
AU  - Nugent K
AU  - DDD Study
AU  - Raymond FL
AU  - Venselaar H
AU  - Demurger F
AU  - Soler-Alfonso C
AU  - Li D
AU  - Bhoj E
AU  - Hayes I
AU  - Hamilton NP
AU  - Ahmad A
AU  - Fisher R
AU  - van den Born M
AU  - Willems M
AU  - Sorlin A
AU  - Delanne J
AU  - Moutton S
AU  - Christophe P
AU  - Mau-Them FT
AU  - Vitobello A
AU  - Goel H
AU  - Massingham L
AU  - Phornphutkul C
AU  - Schwab J
AU  - Keren B
AU  - Charles P
AU  - Vreeburg M
AU  - De Simone L
AU  - Hoganson G
AU  - Iascone M
AU  - Milani D
AU  - Evenepoel L
AU  - Revencu N
AU  - Ward DI
AU  - Burns K
AU  - Krantz I
AU  - Raible SE
AU  - Murrell JR
AU  - Wood K
AU  - Cho MT
AU  - van Bokhoven H
AU  - Muenke M
AU  - Kleefstra T
AU  - Bodmer R
AU  - de Brouwer APM
PY  - 2020
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2020.05.017
UR  - https://doi.org/10.1016/j.ajhg.2020.05.017
ER  -

APA

LELM, V., S, K., E, D. B., S, G., M, O., I, V. O., M, K., M, W., S, K., DL, P., D, W., A, B., K, M., A, R., E, G., JEV, M., C, G., K, W., C, G., J, B., HJ, V., K, B., C, R., SG, K., P, K., A, L., A, A., T, B. D. V., K, N., Study, D., FL, R., H, V., F, D., C, S., D, L., E, B., I, H., NP, H., A, A., R, F., M, V. D. B., M, W., A, S., J, D., S, M., P, C., FT, M., A, V., H, G., L, M., C, P., J, S., B, K., P, C., M, V., L, D. S., G, H., M, I., D, M., L, E., N, R., DI, W., K, B., I, K., SE, R., JR, M., K, W., MT, C., H, V. B., M, M., T, K., R, B., & APM, D. B. (2020). De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2020.05.017

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pubmed · retrieved 2026-09-26T14:10:20.400Z