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Items: 20

1.

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.

van der Wal E, den Hamer B, van der Vliet PJ, Tok M, Brands T, Eussen B, Lemmers RJLF, Freund C, de Klein A, Buijsen RAM, van Roon-Mom WMC, Tawil R, van der Maarel SM, de Greef JC.

Stem Cell Res. 2019 Aug 28;40:101560. doi: 10.1016/j.scr.2019.101560. [Epub ahead of print]

2.

Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.

Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.

Hum Mol Genet. 2018 Oct 15;27(20):3488-3497. doi: 10.1093/hmg/ddy236.

3.

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

Mul K, Voermans NC, Lemmers RJLF, Jonker MA, van der Vliet PJ, Padberg GW, van Engelen BGM, van der Maarel SM, Horlings CGC.

Clin Genet. 2018 Dec;94(6):521-527. doi: 10.1111/cge.13446. Epub 2018 Oct 8.

PMID:
30211448
4.

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.

Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE.

Ann Neurol. 2018 Nov;84(5):627-637. doi: 10.1002/ana.25326. Epub 2018 Oct 16.

5.

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

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

6.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.

J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.

7.

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

Lemmers RJ, van der Vliet PJ, Balog J, Goeman JJ, Arindrarto W, Krom YD, Straasheijm KR, Debipersad RD, Özel G, Sowden J, Snider L, Mul K, Sacconi S, van Engelen B, Tapscott SJ, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2018 Jan;26(1):94-106. doi: 10.1038/s41431-017-0015-0. Epub 2017 Nov 21.

8.

Adding quantitative muscle MRI to the FSHD clinical trial toolbox.

Mul K, Vincenten SCC, Voermans NC, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Padberg GW, Horlings CGC, van Engelen BGM.

Neurology. 2017 Nov 14;89(20):2057-2065. doi: 10.1212/WNL.0000000000004647. Epub 2017 Oct 13.

9.

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

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM.

Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013.

10.

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

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2016;11(2):175. doi: 10.1080/15592294.2016.1161273. No abstract available.

11.

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

Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, de Jong A, F Lemmers RJ, Tawil R, Tapscott SJ, van der Maarel SM.

Epigenetics. 2015;10(12):1133-42. doi: 10.1080/15592294.2015.1113798. Erratum in: Epigenetics. 2016;11(2):175.

12.

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.

Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.

13.

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

van den Boogaard ML, Lemmers RJ, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM.

Eur J Hum Genet. 2016 Jan;24(1):78-85. doi: 10.1038/ejhg.2015.55. Epub 2015 Mar 18.

14.

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

Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM.

Hum Mol Genet. 2015 Feb 1;24(3):659-69. doi: 10.1093/hmg/ddu486. Epub 2014 Sep 25.

15.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM.

Am J Hum Genet. 2013 Oct 3;93(4):744-51. doi: 10.1016/j.ajhg.2013.08.004. Epub 2013 Sep 26.

16.

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

Schaap M, Lemmers RJ, Maassen R, van der Vliet PJ, Hoogerheide LF, van Dijk HK, Baştürk N, de Knijff P, van der Maarel SM.

BMC Genomics. 2013 Mar 4;14:143. doi: 10.1186/1471-2164-14-143.

17.

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

Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.

Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.

18.

A unifying genetic model for facioscapulohumeral muscular dystrophy.

Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.

Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19.

19.

Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.

Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de Knijff P, van der Maarel SM.

Am J Hum Genet. 2010 Mar 12;86(3):364-77. doi: 10.1016/j.ajhg.2010.01.035. Epub 2010 Mar 4.

20.

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.

Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM.

Am J Hum Genet. 2007 Nov;81(5):884-94. Epub 2007 Sep 7.

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