Center-Authored Papers

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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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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
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
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJLF, Winokur ST, Tawil R et al..  2009.  RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.. Human molecular genetics. 18(13):2414-30. 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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Mason AG, Slieker RC, Balog J, Lemmers RJLF, Wong C-J, Yao Z, Lim J-W, Filippova GN, Ne E, Tawil R et al..  2017.  SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.. Skeletal muscle. 7:12. 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
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
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract
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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
Balog J, Miller D, Sanchez-Curtailles E, Carbo-Marques J, Block G, Potman M, de Knijff P, Lemmers RJLF, Tapscott SJ, van der Maarel SM.  2012.  Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.. European journal of human genetics : EJHG. 20(2):185-191. 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