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

Volltext

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges von Efthymiou, Stephanie, Lemmers, Richard J L F, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico

Volltext

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes von Mason, Amanda G, Slieker, Roderick C, Balog, Judit, Lemmers, Richard J L F, Wong, Chao-Jen, Yao, Zizhen, Lim, Jong-Won, Filippova, Galina N, Ne, Enrico, Tawil, Rabi, Heijmans, Bas T, Tapscott, Stephen J, van der Maarel, Silvère M

Volltext

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy von Lemmers, Richard J.L.F., Wohlgemuth, Mariëlle, van der Gaag, Kristiaan J., van der Vliet, Patrick J., van Teijlingen, Corrie M.M., de Knijff, Peter, Padberg, George W., Frants, Rune R., van der Maarel, Silvère M.

Volltext

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene von Snider, Lauren, Geng, Linda N, Lemmers, Richard J L F, Kyba, Michael, Ware, Carol B, Nelson, Angelique M, Tawil, Rabi, Filippova, Galina N, van der Maarel, Silvère M, Tapscott, Stephen J, Miller, Daniel G

Volltext

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India von Vishnu, Venugopalan Y, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J, Kretkiewicz, Marcelina M, Macken, William L, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M, Bhatia, Rohit, Wilson, Lindsay A, Houlden, Henry, Hanna, Michael G, Bugiardini, Enrico, van der Maarel, Silvère M, Srivastava, M V Padma

Volltext

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation von Chen, Kelan, Jiang Hu, Darcy L. Moore, Ruijie Liu, Sarah A. Kessans, Kelsey Breslin, Isabelle S. Lucet, Andrew Keniry, Huei San Leong, Clare L. Parish, Douglas J. Hilton, Richard J. L. F. Lemmers, Silvère M. van der Maarel, Peter E. Czabotar, Renwick C. J. Dobson, Matthew E. Ritchie, Graham F. Kay, James M. Murphy, Marnie E. Blewitt

Volltext

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.

Volltext

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines von Giardina, Emiliano, Camaño, Pilar, Burton‐Jones, Sarah, Ravenscroft, Gina, Henning, Franclo, Magdinier, Frederique, Stoep, Nienke, Vliet, Patrick J., Bernard, Rafaëlle, Tomaselli, Pedro J., Davis, Mark R., Nishino, Ichizo, Oflazer, Piraye, Race, Valerie, Vishnu, Venugopalan Y., Williams, Victoria, Sobreira, Cláudia F. R., Maarel, Silvere M., Moore, Steve A., Voermans, Nicol C., Lemmers, Richard J. L. F.

Volltext

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect von Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M

Volltext

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.

Volltext

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

Volltext

Identification of a potential physiological precursor of aberrant cells in refractory coeliac disease type II von Schmitz, Frederike, Tjon, Jennifer M L, Lai, Yuching, Thompson, Allan, Kooy-Winkelaar, Yvonne, Lemmers, Richard J L F, Verspaget, Hein W, Mearin, M Luisa, Staal, Frank J, Schreurs, Marco W, Cupedo, Tom, Langerak, Anton W, Mulder, Chris J, van Bergen, Jeroen, Koning, Frits

Volltext

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.

Volltext

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy von van der Maarel, Silvère M, van Overveld, Petra G M, Lemmers, Richard J F L, Sandkuijl, Lodewijk A, Enthoven, Leo, Winokur, Sara T, Bakels, Floor, Padberg, George W, van Ommen, Gert-Jan B, Frants, Rune R

Volltext

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

Volltext

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy von Bruels, Christine C., Littel, Hannah R., Daugherty, Audrey L., Stafki, Seth, Estrella, Elicia A., McGaughy, Emily S., Truong, Don, Badalamenti, Jonathan P., Pais, Lynn, Ganesh, Vijay S., O'Donnell‐Luria, Anne, Stalker, Heather J., Wang, Yang, Collins, Christin, Behlmann, Andrea, Lemmers, Richard J. L. F., Maarel, Silvère M., Laine, Regina, Ghosh, Partha S., Darras, Basil T., Zingariello, Carla D., Pacak, Christina A., Kunkel, Louis M., Kang, Peter B.

Volltext

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.

Volltext

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy von Lemmers, Richard J. F.L., Wohlgemuth, Mariëlle, Frants, Rune R., Padberg, George W., Morava, Eva, van der Maarel, Silvère M.

Volltext

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD von 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

Volltext