De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Lot Snijders Blok; Tjitske Kleefstra; Hanka Venselaar; Saskia Maas; Hester Y. Kroes; Augusta M. A. Lachmeijer; Koen L. van Gassen; Helen Firth; Susan Tomkins; Simon Bodek; The D. D. D. Study; Katrin Ounap; Monica H. Wojcik; Christopher Cunniff; Katherine Bergstrom; Zoe Powis; Sha Tang; Deepali N. Shinde; Catherine Au; Alejandro D. Iglesias; Kosuke Izumi; Jacqueline Leonard; Ahmad Abou Tayoun; Samuel W. Baker; Marco Tartaglia; Marcello Niceta; Maria Lisa Dentici; Nobuhiko Okamoto; Noriko Miyake; Naomichi Matsumoto; Antonio Vitobello; Laurence Faivre; Christophe Philippe; Christian Gilissen; Laurens Wiel; Rolph Pfundt; Pelagia Deriziotis; Han G. Brunner; Simon E. Fisher

doi:10.1016/j.ajhg.2019.06.007

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia Maas, Hester Y. Kroes, Augusta M. A. Lachmeijer, Koen L. van Gassen, Helen Firth, Susan Tomkins, Simon Bodek, The D. D. D. Study, Katrin Ounap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zoe Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro D. IglesiasKosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

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

Original language	English
Pages (from-to)	403-412
Number of pages	10
Journal	American Journal of Human Genetics
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2019.06.007
Publication status	Published - Aug 2019

Keywords

TRANSCRIPTIONAL REGULATION
PROTEINS
BINDING
BRN-2
HOMODIMERIZATION
EXPRESSION
SPEECH
GENES

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10.1016/j.ajhg.2019.06.007

Cite this

Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., van Gassen, K. L., Firth, H., Tomkins, S., Bodek, S., Study, T. D. D. D., Ounap, K., Wojcik, M. H., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde, D. N., Au, C., ... Fisher, S. E. (2019). De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics, 105(2), 403-412. https://doi.org/10.1016/j.ajhg.2019.06.007

Blok, Lot Snijders ; Kleefstra, Tjitske ; Venselaar, Hanka ; Maas, Saskia ; Kroes, Hester Y. ; Lachmeijer, Augusta M. A. ; van Gassen, Koen L. ; Firth, Helen ; Tomkins, Susan ; Bodek, Simon ; Study, The D. D. D. ; Ounap, Katrin ; Wojcik, Monica H. ; Cunniff, Christopher ; Bergstrom, Katherine ; Powis, Zoe ; Tang, Sha ; Shinde, Deepali N. ; Au, Catherine ; Iglesias, Alejandro D. ; Izumi, Kosuke ; Leonard, Jacqueline ; Abou Tayoun, Ahmad ; Baker, Samuel W. ; Tartaglia, Marco ; Niceta, Marcello ; Dentici, Maria Lisa ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Vitobello, Antonio ; Faivre, Laurence ; Philippe, Christophe ; Gilissen, Christian ; Wiel, Laurens ; Pfundt, Rolph ; Deriziotis, Pelagia ; Brunner, Han G. ; Fisher, Simon E. / De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. In: American Journal of Human Genetics. 2019 ; Vol. 105, No. 2. pp. 403-412.

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title = "De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder",

keywords = "TRANSCRIPTIONAL REGULATION, PROTEINS, BINDING, BRN-2, HOMODIMERIZATION, EXPRESSION, SPEECH, GENES",

author = "Blok, {Lot Snijders} and Tjitske Kleefstra and Hanka Venselaar and Saskia Maas and Kroes, {Hester Y.} and Lachmeijer, {Augusta M. A.} and {van Gassen}, {Koen L.} and Helen Firth and Susan Tomkins and Simon Bodek and Study, {The D. D. D.} and Katrin Ounap and Wojcik, {Monica H.} and Christopher Cunniff and Katherine Bergstrom and Zoe Powis and Sha Tang and Shinde, {Deepali N.} and Catherine Au and Iglesias, {Alejandro D.} and Kosuke Izumi and Jacqueline Leonard and {Abou Tayoun}, Ahmad and Baker, {Samuel W.} and Marco Tartaglia and Marcello Niceta and Dentici, {Maria Lisa} and Nobuhiko Okamoto and Noriko Miyake and Naomichi Matsumoto and Antonio Vitobello and Laurence Faivre and Christophe Philippe and Christian Gilissen and Laurens Wiel and Rolph Pfundt and Pelagia Deriziotis and Brunner, {Han G.} and Fisher, {Simon E.}",

year = "2019",

month = aug,

doi = "10.1016/j.ajhg.2019.06.007",

language = "English",

volume = "105",

pages = "403--412",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

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Blok, LS, Kleefstra, T, Venselaar, H, Maas, S, Kroes, HY, Lachmeijer, AMA, van Gassen, KL, Firth, H, Tomkins, S, Bodek, S, Study, TDDD, Ounap, K, Wojcik, MH, Cunniff, C, Bergstrom, K, Powis, Z, Tang, S, Shinde, DN, Au, C, Iglesias, AD, Izumi, K, Leonard, J, Abou Tayoun, A, Baker, SW, Tartaglia, M, Niceta, M, Dentici, ML, Okamoto, N, Miyake, N, Matsumoto, N, Vitobello, A, Faivre, L, Philippe, C, Gilissen, C, Wiel, L, Pfundt, R, Deriziotis, P, Brunner, HG & Fisher, SE 2019, 'De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 105, no. 2, pp. 403-412. https://doi.org/10.1016/j.ajhg.2019.06.007

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. / Blok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L.; Firth, Helen; Tomkins, Susan; Bodek, Simon; Study, The D. D. D.; Ounap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoe; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W.; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G.; Fisher, Simon E.

In: American Journal of Human Genetics, Vol. 105, No. 2, 08.2019, p. 403-412.

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

TY - JOUR

T1 - De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

AU - Blok, Lot Snijders

AU - Kleefstra, Tjitske

AU - Venselaar, Hanka

AU - Maas, Saskia

AU - Kroes, Hester Y.

AU - Lachmeijer, Augusta M. A.

AU - van Gassen, Koen L.

AU - Firth, Helen

AU - Tomkins, Susan

AU - Bodek, Simon

AU - Study, The D. D. D.

AU - Ounap, Katrin

AU - Wojcik, Monica H.

AU - Cunniff, Christopher

AU - Bergstrom, Katherine

AU - Powis, Zoe

AU - Tang, Sha

AU - Shinde, Deepali N.

AU - Au, Catherine

AU - Iglesias, Alejandro D.

AU - Izumi, Kosuke

AU - Leonard, Jacqueline

AU - Abou Tayoun, Ahmad

AU - Baker, Samuel W.

AU - Tartaglia, Marco

AU - Niceta, Marcello

AU - Dentici, Maria Lisa

AU - Okamoto, Nobuhiko

AU - Miyake, Noriko

AU - Matsumoto, Naomichi

AU - Vitobello, Antonio

AU - Faivre, Laurence

AU - Philippe, Christophe

AU - Gilissen, Christian

AU - Wiel, Laurens

AU - Pfundt, Rolph

AU - Deriziotis, Pelagia

AU - Brunner, Han G.

AU - Fisher, Simon E.

PY - 2019/8

Y1 - 2019/8

KW - TRANSCRIPTIONAL REGULATION

KW - PROTEINS

KW - BINDING

KW - BRN-2

KW - HOMODIMERIZATION

KW - EXPRESSION

KW - SPEECH

KW - GENES

U2 - 10.1016/j.ajhg.2019.06.007

DO - 10.1016/j.ajhg.2019.06.007

M3 - Article

VL - 105

SP - 403

EP - 412

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -