Center-Authored Papers

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Block GJ, Petek LM, Narayanan D, Amell AM, Moore JM, Rabaia NA, Tyler A, van der Maarel SM, Tawil R, Filippova GN et al..  2012.  Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production.. PloS one. 7(4):e35532. Abstract
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Campbell AE, Oliva J, Yates MP, Zhong JW, Shadle SC, Snider L, Singh N, Tai S, Hiramuki Y, Tawil R et al..  2017.  BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.. Skeletal muscle. 7(1):16. Abstract
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Tawil R, Padberg GW, Shaw DW, van der Maarel SM, Tapscott SJ.  2016.  Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.. Neuromuscular disorders : NMD. 26(2):181-186.
Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BGM, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM.  2012.  Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.. Epigenetics : official journal of the DNA Methylation Society. 7(6):579-584. Abstract
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Lim J-W, Snider L, Yao Z, Tawil R, van der Maarel SM, Rigo F, Bennett FC, Filippova GN, Tapscott SJ.  2015.  DICER/AGO-dependent Epigenetic Silencing of D4Z4 Repeats Enhanced by Exogenous siRNA Suggests Mechanisms and Therapies for FSHD.. Human molecular genetics. Abstract
Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR et al..  2012.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4. 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
Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, van der Maarel SM, Ruzzo WL, Gentleman RC, Tawil R et al..  2012.  DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy.. Developmental cell. 22(1):38-51. Abstract
Young JM, Whiddon JL, Yao Z, Kasinathan B, Snider L, Geng LN, Balog J, Tawil R, van der Maarel SM, Tapscott SJ.  2013.  DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.. PLoS genetics. 9(11):e1003947. Abstract
Thijssen PE, Balog J, Yao Z, Pham TP, Tawil R, Tapscott SJ, van der Maarel SM.  2014.  DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.. Skeletal muscle. 4:19. Abstract
Yao Z, Snider L, Balog J, Lemmers RJLF, van der Maarel SM, Tawil R, Tapscott SJ.  2014.  DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.. Human molecular genetics. Abstract
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Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ et al..  2010.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.. PLoS genetics. 6(10):e1001181. Abstract
Tawil R, van der Maarel SM, Tapscott SJ.  2014.  Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.. Skeletal muscle. 4:12. Abstract
van der Maarel SM, Tawil R, Tapscott SJ.  2011.  Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.. Trends in molecular medicine. 17(5):252-8. Abstract
van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.  2012.  Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.. Current opinion in neurology. 25(5):614-20. Abstract
Feng Q, Snider L, Jagannathan S, Tawil R, van der Maarel SM, Tapscott SJ, Bradley RK.  2015.  A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.. eLife. 4 Abstract
Sacconi S, Lemmers RJLF, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L et al..  2013.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.. American journal of human genetics. 93(4):744-51. Abstract
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Krom YD, Dumonceaux J, Mamchaoui K, den Hamer B, Mariot V, Negroni E, Geng LN, Martin N, Tawil R, Tapscott SJ et al..  2012.  Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD.. The American journal of pathology. 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
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Statland JM, Odrzywolski KJ, Shah B, Henderson D, Fricke AF, van der Maarel SM, Tapscott SJ, Tawil R.  2015.  Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies.. Journal of neuromuscular diseases. 2(3):291-299. Abstract
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
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, Maves L, Snider L, Knopp P, Zammit PS et al..  2013.  Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.. PLoS genetics. 9(4):e1003415. Abstract
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Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJLF, van der Maarel SM, Tawil R.  2015.  Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.. Neurology. Abstract
Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R.  2014.  Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.. Journal of neuromuscular diseases. 1(2):181-190. Abstract
Statland JM, Shah B, Henderson D, van der Maarel S, Tapscott SJ, Tawil R.  2015.  Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.. Muscle & nerve. Abstract