Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard; Boogaard M van Den; Richard J. L. F. Lemmers; Judit Balog; Marielle Wohlgemuth; Mari Auranen; Satomi Mitsuhashi; Patrick J. van der Vliet; Kirsten R. Straasheijm; Rob F. P. van den Akker; Marjolein Kriek; Marlies E. Y. Laurense-Bik; Vered Raz; Monique M. van Ostaijen-ten Dam; Kerstin B. M. Hansson; Elly L. van der Kooi; Sari Kiuru-Enari; Bjarne Udd; Maarten J. D. van Tol; Ichizo Nishino; Rabi Tawil; Stephen J. Tapscott; Baziel G. M. van Engelen; Silvere M van der Maarel

doi:10.1016/j.ajhg.2016.03.013

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard
, Boogaard M van Den
, Richard J. L. F. Lemmers
, Judit Balog
, Marielle Wohlgemuth
, Mari Auranen
, Satomi Mitsuhashi
, Patrick J. van der Vliet
, Kirsten R. Straasheijm
, Rob F. P. van den Akker
, Marjolein Kriek
, Marlies E. Y. Laurense-Bik
, Vered Raz
, Monique M. van Ostaijen-ten Dam
, Kerstin B. M. Hansson
, Elly L. van der Kooi
, Sari Kiuru-Enari
, Bjarne Udd
, Maarten J. D. van Tol
, Ichizo Nishino

Rabi Tawil, Stephen J. Tapscott, Baziel G. M. van Engelen, Silvere M van der Maarel

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

222 Citations (Scopus)

Original language	English
Pages (from-to)	1020-1029
Journal	American Journal of Human Genetics
Volume	98
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2016.03.013
Publication status	Published - 2016
Publication type	A1 Journal article-refereed

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Publication forum level 3

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10.1016/j.ajhg.2016.03.013

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van den Boogaard, M. L., van Den, B. M., Lemmers, R. J. L. F., Balog, J., Wohlgemuth, M., Auranen, M., Mitsuhashi, S., van der Vliet, P. J., Straasheijm, K. R., van den Akker, R. F. P., Kriek, M., Laurense-Bik, M. E. Y., Raz, V., van Ostaijen-ten Dam, M. M., Hansson, K. B. M., van der Kooi, E. L., Kiuru-Enari, S., Udd, B., van Tol, M. J. D., ... van der Maarel, S. M. (2016). Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. American Journal of Human Genetics, 98(5), 1020-1029. https://doi.org/10.1016/j.ajhg.2016.03.013

@article{4be1005b2265451ea4e9da141c63c2d1,

title = "Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy",

author = "\{van den Boogaard\}, \{Marlinde L.\} and \{van Den\}, \{Boogaard M\} and Lemmers, \{Richard J. L. F.\} and Judit Balog and Marielle Wohlgemuth and Mari Auranen and Satomi Mitsuhashi and \{van der Vliet\}, \{Patrick J.\} and Straasheijm, \{Kirsten R.\} and \{van den Akker\}, \{Rob F. P.\} and Marjolein Kriek and Laurense-Bik, \{Marlies E. Y.\} and Vered Raz and \{van Ostaijen-ten Dam\}, \{Monique M.\} and Hansson, \{Kerstin B. M.\} and \{van der Kooi\}, \{Elly L.\} and Sari Kiuru-Enari and Bjarne Udd and \{van Tol\}, \{Maarten J. D.\} and Ichizo Nishino and Rabi Tawil and Tapscott, \{Stephen J.\} and \{van Engelen\}, \{Baziel G. M.\} and \{van der Maarel\}, \{Silvere M\}",

year = "2016",

doi = "10.1016/j.ajhg.2016.03.013",

language = "English",

volume = "98",

pages = "1020--1029",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

van den Boogaard, ML, van Den, BM, Lemmers, RJLF, Balog, J, Wohlgemuth, M, Auranen, M, Mitsuhashi, S, van der Vliet, PJ, Straasheijm, KR, van den Akker, RFP, Kriek, M, Laurense-Bik, MEY, Raz, V, van Ostaijen-ten Dam, MM, Hansson, KBM, van der Kooi, EL, Kiuru-Enari, S, Udd, B, van Tol, MJD, Nishino, I, Tawil, R, Tapscott, SJ, van Engelen, BGM & van der Maarel, SM 2016, 'Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy', American Journal of Human Genetics, vol. 98, no. 5, pp. 1020-1029. https://doi.org/10.1016/j.ajhg.2016.03.013

TY - JOUR

T1 - Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

AU - van den Boogaard, Marlinde L.

AU - van Den, Boogaard M

AU - Lemmers, Richard J. L. F.

AU - Balog, Judit

AU - Wohlgemuth, Marielle

AU - Auranen, Mari

AU - Mitsuhashi, Satomi

AU - van der Vliet, Patrick J.

AU - Straasheijm, Kirsten R.

AU - van den Akker, Rob F. P.

AU - Kriek, Marjolein

AU - Laurense-Bik, Marlies E. Y.

AU - Raz, Vered

AU - van Ostaijen-ten Dam, Monique M.

AU - Hansson, Kerstin B. M.

AU - van der Kooi, Elly L.

AU - Kiuru-Enari, Sari

AU - Udd, Bjarne

AU - van Tol, Maarten J. D.

AU - Nishino, Ichizo

AU - Tawil, Rabi

AU - Tapscott, Stephen J.

AU - van Engelen, Baziel G. M.

AU - van der Maarel, Silvere M

PY - 2016

Y1 - 2016

U2 - 10.1016/j.ajhg.2016.03.013

DO - 10.1016/j.ajhg.2016.03.013

M3 - Article

SN - 0002-9297

VL - 98

SP - 1020

EP - 1029

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -