De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

D. L. Polla; E. J. Bhoj; J. B. G. M. Verheij; J. S. Klein Wassink-Ruiter; A. Reis; C. Deshpande; A. Gregor; K. Hill-Karfe; A. T. Vulto-van Silfhout; R. Pfundt; E. M. H. F. Bongers; H. Hakonarson; S. Berland; G. Gradek; S. Banka; K. Chandler; L. Gompertz; S. C. Huffels; C. T. R. M. Stumpel; R. Wennekes; A. P. A. Stegmann; W. Reardon; E. K. S. M. Leenders; B. B. A. de Vries; D. Li; E. Zackai; N. Ragge; S. A. Lynch; S. Cuddapah; H. van Bokhoven; C. Zweier; A. P. M. de Brouwer

doi:10.1038/s41436-020-01040-6

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

D. L. Polla, E. J. Bhoj, J. B. G. M. Verheij, J. S. Klein Wassink-Ruiter, A. Reis, C. Deshpande, A. Gregor, K. Hill-Karfe, A. T. Vulto-van Silfhout, R. Pfundt, E. M. H. F. Bongers, H. Hakonarson, S. Berland, G. Gradek, S. Banka, K. Chandler, L. Gompertz, S. C. Huffels, C. T. R. M. Stumpel, R. WennekesA. P. A. Stegmann, W. Reardon, E. K. S. M. Leenders, B. B. A. de Vries, D. Li, E. Zackai, N. Ragge, S. A. Lynch, S. Cuddapah, H. van Bokhoven, C. Zweier, A. P. M. de Brouwer^*

^*Corresponding author for this work

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

6 Citations (Web of Science)

Original language	English
Pages (from-to)	645-652
Number of pages	8
Journal	Genetics in Medicine
Volume	23
Issue number	4
Early online date	27 Nov 2020
DOIs	https://doi.org/10.1038/s41436-020-01040-6
Publication status	Published - Apr 2021

Keywords

FG SYNDROME
MENTAL-RETARDATION
MEDIATOR COMPLEX
OHDO SYNDROME
MUTATION
BLEPHAROPHIMOSIS
GENE
TRANSCRIPTION
DELINEATION
PHENOTYPE

Access to Document

10.1038/s41436-020-01040-6

Cite this

Polla, D. L., Bhoj, E. J., Verheij, J. B. G. M., Wassink-Ruiter, J. S. K., Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Vulto-van Silfhout, A. T., Pfundt, R., Bongers, E. M. H. F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S. C., Stumpel, C. T. R. M., ... de Brouwer, A. P. M. (2021). De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. Genetics in Medicine, 23(4), 645-652. https://doi.org/10.1038/s41436-020-01040-6

Polla, D. L. ; Bhoj, E. J. ; Verheij, J. B. G. M. ; Wassink-Ruiter, J. S. Klein ; Reis, A. ; Deshpande, C. ; Gregor, A. ; Hill-Karfe, K. ; Vulto-van Silfhout, A. T. ; Pfundt, R. ; Bongers, E. M. H. F. ; Hakonarson, H. ; Berland, S. ; Gradek, G. ; Banka, S. ; Chandler, K. ; Gompertz, L. ; Huffels, S. C. ; Stumpel, C. T. R. M. ; Wennekes, R. ; Stegmann, A. P. A. ; Reardon, W. ; Leenders, E. K. S. M. ; de Vries, B. B. A. ; Li, D. ; Zackai, E. ; Ragge, N. ; Lynch, S. A. ; Cuddapah, S. ; van Bokhoven, H. ; Zweier, C. ; de Brouwer, A. P. M. / De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. In: Genetics in Medicine. 2021 ; Vol. 23, No. 4. pp. 645-652.

@article{a2d99058119a41c19bb49aaf9783c686,

title = "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females",

keywords = "FG SYNDROME, MENTAL-RETARDATION, MEDIATOR COMPLEX, OHDO SYNDROME, MUTATION, BLEPHAROPHIMOSIS, GENE, TRANSCRIPTION, DELINEATION, PHENOTYPE",

author = "Polla, {D. L.} and Bhoj, {E. J.} and Verheij, {J. B. G. M.} and Wassink-Ruiter, {J. S. Klein} and A. Reis and C. Deshpande and A. Gregor and K. Hill-Karfe and {Vulto-van Silfhout}, {A. T.} and R. Pfundt and Bongers, {E. M. H. F.} and H. Hakonarson and S. Berland and G. Gradek and S. Banka and K. Chandler and L. Gompertz and Huffels, {S. C.} and Stumpel, {C. T. R. M.} and R. Wennekes and Stegmann, {A. P. A.} and W. Reardon and Leenders, {E. K. S. M.} and {de Vries}, {B. B. A.} and D. Li and E. Zackai and N. Ragge and Lynch, {S. A.} and S. Cuddapah and {van Bokhoven}, H. and C. Zweier and {de Brouwer}, {A. P. M.}",

year = "2021",

month = apr,

doi = "10.1038/s41436-020-01040-6",

language = "English",

volume = "23",

pages = "645--652",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "4",

}

Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Vulto-van Silfhout, AT, Pfundt, R, Bongers, EMHF, Hakonarson, H, Berland, S, Gradek, G, Banka, S, Chandler, K, Gompertz, L, Huffels, SC, Stumpel, CTRM, Wennekes, R, Stegmann, APA, Reardon, W, Leenders, EKSM, de Vries, BBA, Li, D, Zackai, E, Ragge, N, Lynch, SA, Cuddapah, S, van Bokhoven, H, Zweier, C & de Brouwer, APM 2021, 'De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females', Genetics in Medicine, vol. 23, no. 4, pp. 645-652. https://doi.org/10.1038/s41436-020-01040-6

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females. / Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M.

In: Genetics in Medicine, Vol. 23, No. 4, 04.2021, p. 645-652.

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

TY - JOUR

T1 - De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

AU - Polla, D. L.

AU - Bhoj, E. J.

AU - Verheij, J. B. G. M.

AU - Wassink-Ruiter, J. S. Klein

AU - Reis, A.

AU - Deshpande, C.

AU - Gregor, A.

AU - Hill-Karfe, K.

AU - Vulto-van Silfhout, A. T.

AU - Pfundt, R.

AU - Bongers, E. M. H. F.

AU - Hakonarson, H.

AU - Berland, S.

AU - Gradek, G.

AU - Banka, S.

AU - Chandler, K.

AU - Gompertz, L.

AU - Huffels, S. C.

AU - Stumpel, C. T. R. M.

AU - Wennekes, R.

AU - Stegmann, A. P. A.

AU - Reardon, W.

AU - Leenders, E. K. S. M.

AU - de Vries, B. B. A.

AU - Li, D.

AU - Zackai, E.

AU - Ragge, N.

AU - Lynch, S. A.

AU - Cuddapah, S.

AU - van Bokhoven, H.

AU - Zweier, C.

AU - de Brouwer, A. P. M.

PY - 2021/4

Y1 - 2021/4

KW - FG SYNDROME

KW - MENTAL-RETARDATION

KW - MEDIATOR COMPLEX

KW - OHDO SYNDROME

KW - MUTATION

KW - BLEPHAROPHIMOSIS

KW - GENE

KW - TRANSCRIPTION

KW - DELINEATION

KW - PHENOTYPE

U2 - 10.1038/s41436-020-01040-6

DO - 10.1038/s41436-020-01040-6

M3 - Article

C2 - 33244165

VL - 23

SP - 645

EP - 652

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 4

ER -