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

L.E.L.M. Vissers; S. Kalvakuri; E. de Boer; S. Geuer; M. Oud; I. van Outersterp; M. Kwint; M. Witmond; S. Kersten; D.L. Polla; D. Weijers; A. Begtrup; K. McWalter; A. Ruiz; E. Gabau; J.E.V. Morton; C. Griffith; K. Weiss; C. Gamble; J. Bartley; H.J. Vernon; K. Brunet; C. Ruivenkamp; S.G. Kant; P. Kruszka; A. Larson; A. Afenjar; T.B. de Villemeur; K. Nugent; F.L. Raymond; H. Venselaar; F. Demurger; C. Soler-Alfonso; D. Li; E. Bhoj; I. Hayes; N.P. Hamilton; A. Ahmad; R. Fisher; M. van den Born; M. Willems; A. Sorlin; J. Delanne; S. Moutton; P. Christophe; F.T. Mau-Them; A. Vitobello; H. Goel; L. Massingham; C. Phornphutkul; Maaike Vreeburg; DDD Study

doi:10.1016/j.ajhg.2020.05.017

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

L.E.L.M. Vissers, S. Kalvakuri, E. de Boer, S. Geuer, M. Oud, I. van Outersterp, M. Kwint, M. Witmond, S. Kersten, D.L. Polla, D. Weijers, A. Begtrup, K. McWalter, A. Ruiz, E. Gabau, J.E.V. Morton, C. Griffith, K. Weiss, C. Gamble, J. BartleyH.J. Vernon, K. Brunet, C. Ruivenkamp, S.G. Kant, P. Kruszka, A. Larson, A. Afenjar, T.B. de Villemeur, K. Nugent, F.L. Raymond, H. Venselaar, F. Demurger, C. Soler-Alfonso, D. Li, E. Bhoj, I. Hayes, N.P. Hamilton, A. Ahmad, R. Fisher, M. van den Born, M. Willems, A. Sorlin, J. Delanne, S. Moutton, P. Christophe, F.T. Mau-Them, A. Vitobello, H. Goel, L. Massingham, C. Phornphutkul, Maaike Vreeburg, DDD Study

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	164-172
Number of pages	9
Journal	American Journal of Human Genetics
Volume	107
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2020.05.017
Publication status	Published - 2 Jul 2020

Keywords

deadenylase complex
regulators
repressor
subunit
DEADENYLASE COMPLEX
REGULATORS
REPRESSOR
SUBUNIT

Access to Document

10.1016/j.ajhg.2020.05.017

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Vissers, L. E. L. M., Kalvakuri, S., de Boer, E., Geuer, S., Oud, M., van Outersterp, I., Kwint, M., Witmond, M., Kersten, S., Polla, D. L., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, J. E. V., Griffith, C., Weiss, K., Gamble, C., ... DDD Study (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, 107(1), 164-172. https://doi.org/10.1016/j.ajhg.2020.05.017

Vissers, L.E.L.M. ; Kalvakuri, S. ; de Boer, E. ; Geuer, S. ; Oud, M. ; van Outersterp, I. ; Kwint, M. ; Witmond, M. ; Kersten, S. ; Polla, D.L. ; Weijers, D. ; Begtrup, A. ; McWalter, K. ; Ruiz, A. ; Gabau, E. ; Morton, J.E.V. ; Griffith, C. ; Weiss, K. ; Gamble, C. ; Bartley, J. ; Vernon, H.J. ; Brunet, K. ; Ruivenkamp, C. ; Kant, S.G. ; Kruszka, P. ; Larson, A. ; Afenjar, A. ; de Villemeur, T.B. ; Nugent, K. ; Raymond, F.L. ; Venselaar, H. ; Demurger, F. ; Soler-Alfonso, C. ; Li, D. ; Bhoj, E. ; Hayes, I. ; Hamilton, N.P. ; Ahmad, A. ; Fisher, R. ; van den Born, M. ; Willems, M. ; Sorlin, A. ; Delanne, J. ; Moutton, S. ; Christophe, P. ; Mau-Them, F.T. ; Vitobello, A. ; Goel, H. ; Massingham, L. ; Phornphutkul, C. ; Vreeburg, Maaike ; DDD Study. / 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. In: American Journal of Human Genetics. 2020 ; Vol. 107, No. 1. pp. 164-172.

@article{46c22764b5de406b912031be699b5c7c,

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",

keywords = "deadenylase complex, regulators, repressor, subunit, DEADENYLASE COMPLEX, REGULATORS, REPRESSOR, SUBUNIT",

author = "L.E.L.M. Vissers and S. Kalvakuri and {de Boer}, E. and S. Geuer and M. Oud and {van Outersterp}, I. and M. Kwint and M. Witmond and S. Kersten and D.L. Polla and D. Weijers and A. Begtrup and K. McWalter and A. Ruiz and E. Gabau and J.E.V. Morton and C. Griffith and K. Weiss and C. Gamble and J. Bartley and H.J. Vernon and K. Brunet and C. Ruivenkamp and S.G. Kant and P. Kruszka and A. Larson and A. Afenjar and {de Villemeur}, T.B. and K. Nugent and F.L. Raymond and H. Venselaar and F. Demurger and C. Soler-Alfonso and D. Li and E. Bhoj and I. Hayes and N.P. Hamilton and A. Ahmad and R. Fisher and {van den Born}, M. and M. Willems and A. Sorlin and J. Delanne and S. Moutton and P. Christophe and F.T. Mau-Them and A. Vitobello and H. Goel and L. Massingham and C. Phornphutkul and Maaike Vreeburg and {DDD Study}",

year = "2020",

month = jul,

day = "2",

doi = "10.1016/j.ajhg.2020.05.017",

language = "English",

volume = "107",

pages = "164--172",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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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, de Villemeur, TB, Nugent, K, 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, Vreeburg, M & DDD Study 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, vol. 107, no. 1, pp. 164-172. https://doi.org/10.1016/j.ajhg.2020.05.017

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, L.E.L.M.; Kalvakuri, S.; de Boer, E.; Geuer, S.; Oud, M.; van Outersterp, I.; Kwint, M.; Witmond, M.; Kersten, S.; Polla, D.L.; Weijers, D.; Begtrup, A.; McWalter, K.; Ruiz, A.; Gabau, E.; Morton, J.E.V.; Griffith, C.; Weiss, K.; Gamble, C.; Bartley, J.; Vernon, H.J.; Brunet, K.; Ruivenkamp, C.; Kant, S.G.; Kruszka, P.; Larson, A.; Afenjar, A.; de Villemeur, T.B.; Nugent, K.; Raymond, F.L.; Venselaar, H.; Demurger, F.; Soler-Alfonso, C.; Li, D.; Bhoj, E.; Hayes, I.; Hamilton, N.P.; Ahmad, A.; Fisher, R.; van den Born, M.; Willems, M.; Sorlin, A.; Delanne, J.; Moutton, S.; Christophe, P.; Mau-Them, F.T.; Vitobello, A.; Goel, H.; Massingham, L.; Phornphutkul, C.; Vreeburg, Maaike; DDD Study.

In: American Journal of Human Genetics, Vol. 107, No. 1, 02.07.2020, p. 164-172.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - 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, L.E.L.M.

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, D.L.

AU - Weijers, D.

AU - Begtrup, A.

AU - McWalter, K.

AU - Ruiz, A.

AU - Gabau, E.

AU - Morton, J.E.V.

AU - Griffith, C.

AU - Weiss, K.

AU - Gamble, C.

AU - Bartley, J.

AU - Vernon, H.J.

AU - Brunet, K.

AU - Ruivenkamp, C.

AU - Kant, S.G.

AU - Kruszka, P.

AU - Larson, A.

AU - Afenjar, A.

AU - de Villemeur, T.B.

AU - Nugent, K.

AU - Raymond, F.L.

AU - Venselaar, H.

AU - Demurger, F.

AU - Soler-Alfonso, C.

AU - Li, D.

AU - Bhoj, E.

AU - Hayes, I.

AU - Hamilton, N.P.

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, F.T.

AU - Vitobello, A.

AU - Goel, H.

AU - Massingham, L.

AU - Phornphutkul, C.

AU - Vreeburg, Maaike

AU - DDD Study

PY - 2020/7/2

Y1 - 2020/7/2

KW - deadenylase complex

KW - regulators

KW - repressor

KW - subunit

KW - DEADENYLASE COMPLEX

KW - REGULATORS

KW - REPRESSOR

KW - SUBUNIT

U2 - 10.1016/j.ajhg.2020.05.017

DO - 10.1016/j.ajhg.2020.05.017

M3 - Article

C2 - 32553196

VL - 107

SP - 164

EP - 172

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 1

ER -