Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

J. den Hoed; E. de Boer; N. Voisin; A.J.M. Dingemans; N. Guex; L. Wiel; C. Nellaker; S.M. Amudhavalli; S. Banka; F.S. Bena; B. Ben-Zeev; V.R. Bonagura; A.L. Bruel; T. Brunet; H.G. Brunner; H.B. Chew; J. Chrast; L. Cimbalistiene; H. Coon; E.C. Delot; F. Demurger; A.S. Denomme-Pichon; C. Depienne; D. Donnai; D.A. Dyment; O. Elpeleg; L. Faivre; C. Gilissen; L. Granger; B. Haber; Y. Hachiya; Y.H. Abedi; J. Hanebeck; J.Y. Hehir-Kwa; B. Horist; T. Itai; A. Jackson; R. Jewell; K.L. Jones; S. Joss; H. Kashii; M. Kato; A.A. Kattentidt-Mouravieva; F. Kok; U. Kotzaeridou; V. Krishnamurthy; V. Kucinskas; A. Kuechler; A. Lavillaureix; P.F. Liu; DDD Study

doi:10.1016/j.ajhg.2021.01.007

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

J. den Hoed, E. de Boer, N. Voisin, A.J.M. Dingemans, N. Guex, L. Wiel, C. Nellaker, S.M. Amudhavalli, S. Banka, F.S. Bena, B. Ben-Zeev, V.R. Bonagura, A.L. Bruel, T. Brunet, H.G. Brunner, H.B. Chew, J. Chrast, L. Cimbalistiene, H. Coon, E.C. DelotF. Demurger, A.S. Denomme-Pichon, C. Depienne, D. Donnai, D.A. Dyment, O. Elpeleg, L. Faivre, C. Gilissen, L. Granger, B. Haber, Y. Hachiya, Y.H. Abedi, J. Hanebeck, J.Y. Hehir-Kwa, B. Horist, T. Itai, A. Jackson, R. Jewell, K.L. Jones, S. Joss, H. Kashii, M. Kato, A.A. Kattentidt-Mouravieva, F. Kok, U. Kotzaeridou, V. Krishnamurthy, V. Kucinskas, A. Kuechler, A. Lavillaureix, P.F. Liu, DDD Study

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

5 Citations (Web of Science)

Original language	English
Pages (from-to)	346-356
Number of pages	11
Journal	American Journal of Human Genetics
Volume	108
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2021.01.007
Publication status	Published - 4 Feb 2021

Keywords

MISSENSE MUTATIONS
BINDING PROTEIN
EXPRESSION
INTERLEUKIN-2
CHROMATIN
REGION
GENES

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den Hoed, J., de Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S. M., Banka, S., Bena, F. S., Ben-Zeev, B., Bonagura, V. R., Bruel, A. L., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistiene, L., Coon, H., ... DDD Study (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics, 108(2), 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007

den Hoed, J. ; de Boer, E. ; Voisin, N. ; Dingemans, A.J.M. ; Guex, N. ; Wiel, L. ; Nellaker, C. ; Amudhavalli, S.M. ; Banka, S. ; Bena, F.S. ; Ben-Zeev, B. ; Bonagura, V.R. ; Bruel, A.L. ; Brunet, T. ; Brunner, H.G. ; Chew, H.B. ; Chrast, J. ; Cimbalistiene, L. ; Coon, H. ; Delot, E.C. ; Demurger, F. ; Denomme-Pichon, A.S. ; Depienne, C. ; Donnai, D. ; Dyment, D.A. ; Elpeleg, O. ; Faivre, L. ; Gilissen, C. ; Granger, L. ; Haber, B. ; Hachiya, Y. ; Abedi, Y.H. ; Hanebeck, J. ; Hehir-Kwa, J.Y. ; Horist, B. ; Itai, T. ; Jackson, A. ; Jewell, R. ; Jones, K.L. ; Joss, S. ; Kashii, H. ; Kato, M. ; Kattentidt-Mouravieva, A.A. ; Kok, F. ; Kotzaeridou, U. ; Krishnamurthy, V. ; Kucinskas, V. ; Kuechler, A. ; Lavillaureix, A. ; Liu, P.F. ; DDD Study. / Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. In: American Journal of Human Genetics. 2021 ; Vol. 108, No. 2. pp. 346-356.

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title = "Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction",

keywords = "MISSENSE MUTATIONS, BINDING PROTEIN, EXPRESSION, INTERLEUKIN-2, CHROMATIN, REGION, GENES",

author = "{den Hoed}, J. and {de Boer}, E. and N. Voisin and A.J.M. Dingemans and N. Guex and L. Wiel and C. Nellaker and S.M. Amudhavalli and S. Banka and F.S. Bena and B. Ben-Zeev and V.R. Bonagura and A.L. Bruel and T. Brunet and H.G. Brunner and H.B. Chew and J. Chrast and L. Cimbalistiene and H. Coon and E.C. Delot and F. Demurger and A.S. Denomme-Pichon and C. Depienne and D. Donnai and D.A. Dyment and O. Elpeleg and L. Faivre and C. Gilissen and L. Granger and B. Haber and Y. Hachiya and Y.H. Abedi and J. Hanebeck and J.Y. Hehir-Kwa and B. Horist and T. Itai and A. Jackson and R. Jewell and K.L. Jones and S. Joss and H. Kashii and M. Kato and A.A. Kattentidt-Mouravieva and F. Kok and U. Kotzaeridou and V. Krishnamurthy and V. Kucinskas and A. Kuechler and A. Lavillaureix and P.F. Liu and {DDD Study}",

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doi = "10.1016/j.ajhg.2021.01.007",

language = "English",

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den Hoed, J, de Boer, E, Voisin, N, Dingemans, AJM, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, SM, Banka, S, Bena, FS, Ben-Zeev, B, Bonagura, VR, Bruel, AL, Brunet, T, Brunner, HG, Chew, HB, Chrast, J, Cimbalistiene, L, Coon, H, Delot, EC, Demurger, F, Denomme-Pichon, AS, Depienne, C, Donnai, D, Dyment, DA, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, YH, Hanebeck, J, Hehir-Kwa, JY, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, KL, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, AA, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kucinskas, V, Kuechler, A, Lavillaureix, A, Liu, PF & DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. / den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; Wiel, L.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistiene, L.; Coon, H.; Delot, E.C.; Demurger, F.; Denomme-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kucinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P.F.; DDD Study.

In: American Journal of Human Genetics, Vol. 108, No. 2, 04.02.2021, p. 346-356.

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

TY - JOUR

T1 - Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

AU - den Hoed, J.

AU - de Boer, E.

AU - Voisin, N.

AU - Dingemans, A.J.M.

AU - Guex, N.

AU - Wiel, L.

AU - Nellaker, C.

AU - Amudhavalli, S.M.

AU - Banka, S.

AU - Bena, F.S.

AU - Ben-Zeev, B.

AU - Bonagura, V.R.

AU - Bruel, A.L.

AU - Brunet, T.

AU - Brunner, H.G.

AU - Chew, H.B.

AU - Chrast, J.

AU - Cimbalistiene, L.

AU - Coon, H.

AU - Delot, E.C.

AU - Demurger, F.

AU - Denomme-Pichon, A.S.

AU - Depienne, C.

AU - Donnai, D.

AU - Dyment, D.A.

AU - Elpeleg, O.

AU - Faivre, L.

AU - Gilissen, C.

AU - Granger, L.

AU - Haber, B.

AU - Hachiya, Y.

AU - Abedi, Y.H.

AU - Hanebeck, J.

AU - Hehir-Kwa, J.Y.

AU - Horist, B.

AU - Itai, T.

AU - Jackson, A.

AU - Jewell, R.

AU - Jones, K.L.

AU - Joss, S.

AU - Kashii, H.

AU - Kato, M.

AU - Kattentidt-Mouravieva, A.A.

AU - Kok, F.

AU - Kotzaeridou, U.

AU - Krishnamurthy, V.

AU - Kucinskas, V.

AU - Kuechler, A.

AU - Lavillaureix, A.

AU - Liu, P.F.

AU - DDD Study

PY - 2021/2/4

Y1 - 2021/2/4

KW - MISSENSE MUTATIONS

KW - BINDING PROTEIN

KW - EXPRESSION

KW - INTERLEUKIN-2

KW - CHROMATIN

KW - REGION

KW - GENES

U2 - 10.1016/j.ajhg.2021.01.007

DO - 10.1016/j.ajhg.2021.01.007

M3 - Article

C2 - 33513338

VL - 108

SP - 346

EP - 356

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -