Center-Authored Papers

Filters: Author is van den Boogaard, Marlinde L  [Clear All Filters]
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Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, De Jong A, Lemmers RJLF, Tawil R et al..  2015.  Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.. Epigenetics. Abstract
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M et al..  2016.  Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.. American journal of human genetics. 98(5):1020-9. Abstract
van den Boogaard ML, Jfl Lemmers R, Camaño P, van der Vliet PJ, Voermans N, van Engelen BGM, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R et al..  2015.  Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.. European journal of human genetics : EJHG. Abstract
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Lemmers RJLF, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CAL, Heard P, Bakker B, Tapscott S, Cody JD et al..  2015.  Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.. Human mutation. Abstract