The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 von Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.

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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD von de Greef, Jessica C, Lemmers, Richard J.L.F, van Engelen, Baziel G.M, Sacconi, Sabrina, Venance, Shannon L, Frants, Rune R, Tawil, Rabi, van der Maarel, Silvère M

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Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy von Hamanaka, Kohei, Šikrová, Darina, Mitsuhashi, Satomi, Masuda, Hiroki, Sekiguchi, Yukari, Sugiyama, Atsuhiko, Shibuya, Kazumoto, Lemmers, Richard J.L.F., Goossens, Remko, Ogawa, Megumu, Nagao, Koji, Obuse, Chikashi, Noguchi, Satoru, Hayashi, Yukiko K., Kuwabara, Satoshi, Balog, Judit, Nishino, Ichizo, van der Maarel, Silvère M.

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Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere von Lemmers, Richard J.L.F., de Kievit, Peggy, Sandkuijl, Lodewijk, Padberg, George W., van Ommen, Gert-Jan B., Frants, Rune R., van der Maarel, Silvère M.

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DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle von Yao, Zizhen, Snider, Lauren, Balog, Judit, Lemmers, Richard J L F, Van Der Maarel, Silvère M, Tawil, Rabi, Tapscott, Stephen J

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy von Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M

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Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter von Leegwater, Peter A.J., Vermeulen, Gerre, Könst, Andrea A.M., Naidu, Sakkubai, Mulders, Joyce, Visser, Allerdien, Kersbergen, Paula, Mobach, Dragosh, Fonds, Dafna, van Berkel, Carola G.M., Lemmers, Richard J.L.F., Frants, Rune R., Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., van der Knaap, Marjo S.

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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy von van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.

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FSHD1 and FSHD2 form a disease continuum von Sacconi, Sabrina, Briand-Suleau, Audrey, Gros, Marilyn, Baudoin, Christian, Lemmers, Richard J.L.F, Rondeau, Sophie, Lagha, Nadira, Nigumann, Pilvi, Cambieri, Chiara, Puma, Angela, Chapon, Françoise, Stojkovic, Tanya, Vial, Christophe, Bouhour, Françoise, Cao, Michelangelo, Pegoraro, Elena, Petiot, Philippe, Behin, Anthony, Marc, Bras, Eymard, Bruno, Echaniz-Laguna, Andoni, Laforet, Pascal, Salviati, Leonardo, Jeanpierre, Marc, Cristofari, Gaël, van der Maarel, Silvère M

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

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Adding quantitative muscle MRI to the FSHD clinical trial toolbox von Mul, Karlien, Vincenten, Sanne C.C, Voermans, Nicol C, Lemmers, Richard J.L.F, van der Vliet, Patrick J, van der Maarel, Silvère M, Padberg, George W, Horlings, Corinne G.C, van Engelen, Baziel G.M

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Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1 von Lemmers, Richard J. L. F.

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Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats von Statland, Jeffrey M, Donlin-Smith, Colleen M, Tapscott, Stephen J, Lemmers, Richard J.L.F, van der Maarel, Silvère M, Tawil, Rabi

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Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy von Goselink, Rianne J.M, Mul, Karlien, van Kernebeek, Caroline R, Lemmers, Richard J.L.F, van der Maarel, Silvère M, Schreuder, Tim H.A, Erasmus, Corrie E, Padberg, George W, Statland, Jeffrey M, Voermans, Nicol C, van Engelen, Baziel G.M

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De novo whole-genome assembly of a wild type yeast isolate using nanopore sequencing von Liem, Michael, Jansen, Hans J, Dirks, Ron P, Henkel, Christiaan V, van Heusden, G Paul H, Lemmers, Richard J L F, Omer, Trifa, Shao, Shuai, Punt, Peter J, Spaink, Herman P

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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy von Snider, Lauren, Asawachaicharn, Amy, Tyler, Ashlee E., Geng, Linda N., Petek, Lisa M., Maves, Lisa, Miller, Daniel G., Lemmers, Richard J.L.F., Winokur, Sara T., Tawil, Rabi, van der Maarel, Silvère M., Filippova, Galina N., Tapscott, Stephen J.

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DUX4 expression in cancer induces a metastable early embryonic totipotent program von Smith, Andrew A., Nip, Yee, Bennett, Sean R., Hamm, Danielle C., Lemmers, Richard J.L.F., van der Vliet, Patrick J., Setty, Manu, van der Maarel, Silvère M., Tapscott, Stephen J.

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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation von Mul, Karlien, Lemmers, Richard J.L.F, Kriek, Marjolein, van der Vliet, Patrick J, van den Boogaard, Marlinde L, Badrising, Umesh A, Graham, John M, Lin, Angela E, Brand, Harrison, Moore, Steven A, Johnson, Katherine, Evangelista, Teresinha, Töpf, Ana, Straub, Volker, Kapetanovic García, Solange, Sacconi, Sabrina, Tawil, Rabi, Tapscott, Stephen J, Voermans, Nicol C, van Engelen, Baziel G.M, Horlings, Corinne G.C, Shaw, Natalie D, van der Maarel, Silvère M

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Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution von Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Gaag, Kristiaan J., Zuniga, Sofia, Frants, Rune R., de Knijff, Peter, van der Maarel, Silvère M.

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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation von Beijer, Danique, Kim, Hong Joo, Guo, Lin, O'Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M, Drake, Lauren E, Ford, Alice F, Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C, Lemmers, Richard Jlf, van der Maarel, Silvère M, Bonner, Devon, Sampson, Jacinda B, Wheeler, Matthew T, Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J Paul, Baets, Jonathan

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