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Author/Creator Tapscott, Stephen J

2. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene. Issue 2 (12th January 2021)

Authors:
Lemmers, Richard J L F; van der Vliet, Patrick J; Blatnik, Ana; Balog, Judit; Zidar, Janez; Henderson, Don; Goselink, Rianne; Tapscott, Stephen J; Voermans, Nicol C; Tawil, Rabi; Padberg, George W A M; van Engelen, Baziel GM; van der Maarel, Silvère M
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 2(2022)
Page Start:
180
Record Type:
Journal Article
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3. DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD. (19th October 2019)

Authors:
Shadle, Sean C; Bennett, Sean R; Wong, Chao-Jen; Karreman, Nancy A; Campbell, Amy E; van der Maarel, Silvère M; Bass, Brenda L; Tapscott, Stephen J
Journal:
Human molecular genetics
Issue:
Volume 28:Number 23(2019)
Page Start:
3997
Record Type:
Journal Article
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7. Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing. Issue 12 (1st November 2019)

Authors:
Goossens, Remko; van den Boogaard, Marlinde L; Lemmers, Richard J L F; Balog, Judit; van der Vliet, Patrick J; Willemsen, Iris M; Schouten, Julie; Maggio, Ignazio; van der Stoep, Nienke; Hoeben, Rob C; Tapscott, Stephen J; Geijsen, Niels; Gonçalves, Manuel A F V; Sacconi, Sabrina; Tawil, Rabi; va...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 12(2019)
Page Start:
828
Record Type:
Journal Article
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8. Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies. (21st February 2020)

Authors:
Wong, Chao-Jen; Wang, Leo H; Friedman, Seth D; Shaw, Dennis; Campbell, Amy E; Budech, Chris B; Lewis, Leann M; Lemmers, Richard J F L; Statland, Jeffrey M; van der Maarel, Silvère M; Tawil, Rabi N; Tapscott, Stephen J
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
1030
Record Type:
Journal Article
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9. Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. Issue 7 (21st March 2018)

Authors:
Balog, Judit; Goossens, Remko; Lemmers, Richard J L F; Straasheijm, Kirsten R; van der Vliet, Patrick J; Heuvel, Anita van den; Cambieri, Chiara; Capet, Nicolas; Feasson, Léonard; Manel, Veronique; Contet, Julian; Kriek, Marjolein; Donlin-Smith, Colleen M; Ruivenkamp, Claudia A L; Heard, Patricia...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 7(2018)
Page Start:
469
Record Type:
Journal Article
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10. MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD. (12th October 2018)

Authors:
Wang, Leo H; Friedman, Seth D; Shaw, Dennis; Snider, Lauren; Wong, Chao-Jen; Budech, Chris B; Poliachik, Sandra L; Gove, Nancy E; Lewis, Leann M; Campbell, Amy E; Lemmers, Richard J F L; Maarel, Silvère M; Tapscott, Stephen J; Tawil, Rabi N
Journal:
Human molecular genetics
Issue:
Volume 28:Number 3(2019)
Page Start:
476
Record Type:
Journal Article
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