Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions
Schaap, Mireille, Lemmers, Richard J L F, Maassen, Roel, van der Vliet, Patrick J, Hoogerheide, Lennart F, van Dijk, Herman K, Baştürk, Nalan, de Knijff, Peter, van der Maarel, Silvère M
Published in BMC genomics (04.03.2013)
Published in BMC genomics (04.03.2013)
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Journal Article
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
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.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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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
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 FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
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.
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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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
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
Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul, Karlien, Voermans, Nicol C., Lemmers, Richard J.L.F., Jonker, Marianne A., van der Vliet, Patrick J., Padberg, George W., van Engelen, Baziel G.M., van der Maarel, Silvère M., Horlings, Corinne G.C.
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
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Journal Article
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink, Rianne J.M., Schreuder, Tim H.A., van Alfen, Nens, de Groot, Imelda J.M., Jansen, Merel, Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Stoep, Nienke, Theelen, Thomas, Voermans, Nicol C., van der Maarel, Silvère M., van Engelen, Baziel G.M., Erasmus, Corrie E.
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Journal Article
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
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
Published in Human mutation (01.10.2009)
Published in Human mutation (01.10.2009)
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Journal Article
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Lemmers, Richard Jlf, van der Vliet, Patrick J, Balog, Judit, Goeman, Jelle J, Arindrarto, Wibowo, Krom, Yvonne D, Straasheijm, Kirsten R, Debipersad, Rashmie D, Özel, Gizem, Sowden, Janet, Snider, Lauren, Mul, Karlien, Sacconi, Sabrina, van Engelen, Baziel, Tapscott, Stephen J, Tawil, Rabi, van der Maarel, Silvère M
Published in European journal of human genetics : EJHG (01.01.2018)
Published in European journal of human genetics : EJHG (01.01.2018)
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Journal Article
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
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
Published in JCI insight (22.07.2021)
Published in JCI insight (22.07.2021)
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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
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome
Lemmers, Richard J. L. F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A. L., Heard, Patricia, Bakker, Bert, Tapscott, Stephen, Cody, Jannine D., Tawil, Rabi, van der Maarel, Silvère M.
Published in Human mutation (01.07.2015)
Published in Human mutation (01.07.2015)
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Journal Article
Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features
Dorobek, Małgorzata, van der Maarel, Silvère M, Lemmers, Richard J L F, Ryniewicz, Barbara, Kabzińska, Dagmara, Frants, Rune R, Gawel, Malgorzata, Walecki, Jerzy, Hausmanowa-Petrusewicz, Irena
Published in Journal of child neurology (01.04.2015)
Published in Journal of child neurology (01.04.2015)
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Journal Article
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
van der Maarel, Silvère M, Lemmers, Richard J.L.F, de Kievit, Peggy, Sandkuijl, Lodewijk, Padberg, George W, van Ommen, Gert-Jan B, Frants, Rune R
Published in Nature genetics (01.10.2002)
Published in Nature genetics (01.10.2002)
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Journal Article
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Könst, Andrea A.M, Lemmers, Richard J.L.F, Oudejans, Cees B.M, Fonds, Dafna, Leegwater, Peter A.J, Vermeulen, Gerre, Pronk, Jan C, van Berkel, Carola G.M, Visser, Allerdien, Mobach, Dragosh, van der Knaap, Marjo S, Schutgens, Ruud B.H, Naidu, Sakkubai, Mulders, Joyce, Kersbergen, Paula, Frants, Rune R
Published in Nature genetics (01.12.2001)
Published in Nature genetics (01.12.2001)
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Journal Article
Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47
BALOG, Judit, MILLER, Dan, SANCHEZ-CURTAILLES, Elena, CARBO-MARQUES, Jose, BLOCK, Gregory, POTMAN, Marco, DE KNIJFF, Peter, LEMMERS, Richard Jlf, TAPSCOTT, Stephen J, VAN DER MAAREL, Silvere M
Published in European journal of human genetics : EJHG (01.02.2012)
Published in European journal of human genetics : EJHG (01.02.2012)
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Journal Article
Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
Reynolds, Ben C., Lemmers, Richard J. L. F., Tolmie, John, Howatson, Allan G., Hughes, David A.
Published in Pediatric nephrology (Berlin, West) (01.08.2010)
Published in Pediatric nephrology (Berlin, West) (01.08.2010)
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Journal Article