Sex-Related Differences in Gene Expression in Human Skeletal Muscle

by Welle, Stephen, Tawil, Rabi, Thornton, Charles A.
Published 2008

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

by Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J
Published 2014

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

by Thijssen, Peter E, Balog, Judit, Yao, Zizhen, Pham, Tan Phát, Tawil, Rabi, Tapscott, Stephen J, Van der Maarel, Silvère M
Published 2014

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

by Feng, Qing, Snider, Lauren, Jagannathan, Sujatha, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J, Bradley, Robert K
Published 2015

Gene expression during normal and FSHD myogenesis

by Tsumagari, Koji, Chang, Shao-Chi, Lacey, Michelle, Baribault, Carl, Chittur, Sridar V, Sowden, Janet, Tawil, Rabi, Crawford, Gregory E, Ehrlich, Melanie
Published 2011

DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis

by Young, Janet M., Whiddon, Jennifer L., Yao, Zizhen, Kasinathan, Bhavatharini, Snider, Lauren, Geng, Linda N., Balog, Judit, Tawil, Rabi, van der Maarel, Silvère M., Tapscott, Stephen J.
Published 2013

Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies

by Statland, Jeffrey M., Odrzywolski, Karen J., Shah, Bharati, Henderson, Don, Fricke, Alex F., van der Maarel, Silvére M., Tapscott, Stephen J., Tawil, Rabi
Published 2015

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)

by Petek, Lisa M., Rickard, Amanda M., Budech, Christopher, Poliachik, Sandra L., Shaw, Dennis, Ferguson, Mark R., Tawil, Rabi, Friedman, Seth D., Miller, Daniel G.
Published 2016

Asymmetric Bidirectional Transcription from the FSHD-Causing D4Z4 Array Modulates DUX4 Production

by Block, Gregory J., Petek, Lisa M., Narayanan, Divya, Amell, Amanda M., Moore, James M., Rabaia, Natalia A., Tyler, Ashlee, van der Maarel, Silvere M., Tawil, Rabi, Filippova, Galina N., Miller, Daniel G.
Published 2012

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

by Krom, Yvonne D., Thijssen, Peter E., Young, Janet M., den Hamer, Bianca, Balog, Judit, Yao, Zizhen, Maves, Lisa, Snider, Lauren, Knopp, Paul, Zammit, Peter S., Rijkers, Tonnie, van Engelen, Baziel G. M., Padberg, George W., Frants, Rune R., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.
Published 2013

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

by Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., van der Vliet, Patrick J., Krom, Yvonne D., van den Boogaard, Marlinde L., de Jong, Annika, F Lemmers, Richard J. L., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.
Published 2015

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

by Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Published 2012