Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

Yazar: 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.
Baskı/Yayın Bilgisi 2010

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

Yazar: Schaap, Mireille, Lemmers, Richard JLF, Maassen, Roel, van der Vliet, Patrick J, Hoogerheide, Lennart F, van Dijk, Herman K, Baştürk, Nalan, de Knijff, Peter, van der Maarel, Silvère M
Baskı/Yayın Bilgisi 2013

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

Yazar: Lemmers, Richard J L F, van der Vliet, Patrick J, Vreijling, Jeroen P, Henderson, Don, van der Stoep, Nienke, Voermans, Nicol, van Engelen, Baziel, Baas, Frank, Sacconi, Sabrina, Tawil, Rabi, van der Maarel, Silvère M
Yayımlandı Hum Mol Genet (2018)

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Yazar: 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. 
Baskı/Yayın Bilgisi 2007

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Yazar: 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.
Yayımlandı Neurology (2017)

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

Yazar: Lemmers, Richard JLF, 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, van Engelen, Baziel GM, van der Maarel, Silvère M
Yayımlandı J Med Genet (2022)

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Yazar: van den Boogaard, Marlinde L, JFL Lemmers, Richard, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel GM, Lopez de Munain, Adolfo, Tapscott, Stephen J, van der Stoep, Nienke, Tawil, Rabi, van der Maarel, Silvère M
Yayımlandı Eur J Hum Genet (2016)

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

Yazar: 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.
Yayımlandı Epigenetics (2015)

Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: Consequences for 18p deletion syndrome

Yazar: 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.
Yayımlandı Hum Mutat (2015)

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Yazar: 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.
Yayımlandı Science (2010)

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

Yazar: 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
Yayımlandı Eur J Hum Genet (2017)

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Yazar: 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.
Baskı/Yayın Bilgisi 2013

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

Yazar: 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.
Yayımlandı Ann Neurol (2018)

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variant...

Yazar: Lemmers, Richard J L F, van der Stoep, Nienke, van der Vliet, Patrick J, Moore, Steven A, Granado, David San Leon, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
Yayımlandı J Med Genet (2019)

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Yazar: Balog, Judit, Goossens, Remko, Lemmers, Richard J.L.F, Straasheijm, Kirsten R., van der Vliet, Patrick J., van den Heuvel, Anita, Cambieri, Chiara, Capet, Nicolas, Feasson, Léonard, Manel, Veronique, Contet, Julian, Kriek, Marjolein, Donlin-Smith, Colleen M., Ruivenkamp, Claudia A. L., Heard, Patricia, Tapscott, Stephen J., Cody, Jannine D., Tawil, Rabi, Sacconi, Sabrina, van der Maarel, Silvère M.
Yayımlandı J Med Genet (2018)

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

Yazar: Lemmers, Richard J.L.F., Goeman, Jelle J., van der Vliet, Patrick J., van Nieuwenhuizen, Merlijn P., Balog, Judit, Vos-Versteeg, Marianne, Camano, Pilar, Ramos Arroyo, Maria Antonia, Jerico, Ivonne, Rogers, Mark T., Miller, Daniel G., Upadhyaya, Meena, Verschuuren, Jan J.G.M., Lopez de Munain Arregui, Adolfo, van Engelen, Baziel G.M., Padberg, George W., Sacconi, Sabrina, Tawil, Rabi, Tapscott, Stephen J., Bakker, Bert, van der Maarel, Silvère M.
Yayımlandı Hum Mol Genet (2015)

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Yazar: 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.
Yayımlandı Neurology (2018)

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Yazar: 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.
Yayımlandı Am J Hum Genet (2016)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2012