A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

Jacqueline Goos; WK Vogel; H Mlcochova; CJ Millard; E Esfandiari; WH Selman; E Calpena; N Koelling; EL Carpenter; Sigrid Swagemakers; Peter van der Spek; TM Filtz; J W R Schwabe; UT Iwaniec; Irene Mathijssen; M Leid; SRF Twigg

doi:10.1093/hmg/ddz072

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

Jacqueline Goos
, WK Vogel
, H Mlcochova
, CJ Millard
, E Esfandiari
, WH Selman
, E Calpena
, N Koelling
, EL Carpenter
, Sigrid Swagemakers
, Peter van der Spek
, TM Filtz
, J W R Schwabe
, UT Iwaniec
, Irene Mathijssen
, M Leid
, SRF Twigg

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

30 Citations (Scopus)

94 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	2501-2513
Number of pages	13
Journal	Human Molecular Genetics
Volume	28
Issue number	15
DOIs	https://doi.org/10.1093/hmg/ddz072
Publication status	Published - 2019

Research programs

EMC MM-03-24-01

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10.1093/hmg/ddz072

Repub_121499_O-A.pdfFinal published version, 31.8 MB

http://hdl.handle.net/1765/121499

Cite this

Goos, J., Vogel, WK., Mlcochova, H., Millard, CJ., Esfandiari, E., Selman, WH., Calpena, E., Koelling, N., Carpenter, EL., Swagemakers, S., van der Spek, P., Filtz, TM., Schwabe, J. W. R., Iwaniec, UT., Mathijssen, I., Leid, M., & Twigg, SRF. (2019). A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. Human Molecular Genetics, 28(15), 2501-2513. https://doi.org/10.1093/hmg/ddz072

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title = "A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis",

author = "Jacqueline Goos and WK Vogel and H Mlcochova and CJ Millard and E Esfandiari and WH Selman and E Calpena and N Koelling and EL Carpenter and Sigrid Swagemakers and \{van der Spek\}, Peter and TM Filtz and Schwabe, \{J W R\} and UT Iwaniec and Irene Mathijssen and M Leid and SRF Twigg",

year = "2019",

doi = "10.1093/hmg/ddz072",

language = "Undefined/Unknown",

volume = "28",

pages = "2501--2513",

journal = "Human Molecular Genetics",

issn = "0964-6906",

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}

Goos, J, Vogel, WK, Mlcochova, H, Millard, CJ, Esfandiari, E, Selman, WH, Calpena, E, Koelling, N, Carpenter, EL, Swagemakers, S , van der Spek, P, Filtz, TM, Schwabe, JWR, Iwaniec, UT, Mathijssen, I, Leid, M & Twigg, SRF 2019, 'A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis', Human Molecular Genetics, vol. 28, no. 15, pp. 2501-2513. https://doi.org/10.1093/hmg/ddz072

TY - JOUR

T1 - A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

AU - Goos, Jacqueline

AU - Vogel, WK

AU - Mlcochova, H

AU - Millard, CJ

AU - Esfandiari, E

AU - Selman, WH

AU - Calpena, E

AU - Koelling, N

AU - Carpenter, EL

AU - Swagemakers, Sigrid

AU - van der Spek, Peter

AU - Filtz, TM

AU - Schwabe, J W R

AU - Iwaniec, UT

AU - Mathijssen, Irene

AU - Leid, M

AU - Twigg, SRF

PY - 2019

Y1 - 2019

U2 - 10.1093/hmg/ddz072

DO - 10.1093/hmg/ddz072

M3 - Article

C2 - 31067316

SN - 0964-6906

VL - 28

SP - 2501

EP - 2513

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 15

ER -