Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges
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
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
Published in Biomolecules (Basel, Switzerland) (24.10.2023)
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Journal Article
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
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
Published in Science (American Association for the Advancement of Science) (24.09.2010)
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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Journal Article
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
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
Published in Skeletal muscle (06.06.2017)
Published in Skeletal muscle (06.06.2017)
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Journal Article
Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy
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.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Journal Article
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene
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
Published in PLoS genetics (28.10.2010)
Published in PLoS genetics (28.10.2010)
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Journal Article
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India
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
Published in European journal of human genetics : EJHG (01.09.2024)
Published in European journal of human genetics : EJHG (01.09.2024)
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Journal Article
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
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
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
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Journal Article
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
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, van der Maarel, Silvère M
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
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Journal Article
Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation
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, SilveÌre M. van der Maarel, Peter E. Czabotar, Renwick C. J. Dobson, Matthew E. Ritchie, Graham F. Kay, James M. Murphy, Marnie E. Blewitt
Published in Proceedings of the National Academy of Sciences - PNAS (07.07.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (07.07.2015)
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Journal Article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
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
Published in Human molecular genetics (03.03.2022)
Published in Human molecular genetics (03.03.2022)
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Journal Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
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.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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Journal Article
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Lemmers, Richard J L F, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
Published in Journal of medical genetics (01.10.2019)
Published in Journal of medical genetics (01.10.2019)
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Journal Article
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
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.
Published in Human molecular genetics (01.07.2009)
Published in Human molecular genetics (01.07.2009)
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Journal Article
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
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 in Epigenetics (02.12.2015)
Published in Epigenetics (02.12.2015)
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Journal Article
Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
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.
Published in American journal of human genetics (12.03.2010)
Published in American journal of human genetics (12.03.2010)
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Journal Article
Identification of a potential physiological precursor of aberrant cells in refractory coeliac disease type II
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
Published in Gut (01.04.2013)
Published in Gut (01.04.2013)
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Journal Article
Hybridization analysis of D4Z4 repeat arrays linked to FSHD
Ehrlich, Melanie, Jackson, Kesmic, Tsumagari, Koji, Camaño, Pilar, Lemmers, Richard J. F. L
Published in Chromosoma (01.04.2007)
Published in Chromosoma (01.04.2007)
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Journal Article
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
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
Published in Nature genetics (01.12.2003)
Published in Nature genetics (01.12.2003)
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Journal Article
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
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.
Published in Annals of clinical and translational neurology (01.08.2022)
Published in Annals of clinical and translational neurology (01.08.2022)
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Journal Article
Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J. F.L., Wohlgemuth, Mariëlle, Frants, Rune R., Padberg, George W., Morava, Eva, van der Maarel, Silvère M.
Published in American journal of human genetics (01.12.2004)
Published in American journal of human genetics (01.12.2004)
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Journal Article