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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, et al.
Stem cell research, 2019, 40
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink RJM, Goselink RJM, Schreuder THA, et al.
Annals of neurology, 2018, 84, 5, p 627
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul K, Mul K, Voermans NC, et al.
Clinical genetics, 2018, 94, 6, p 521
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, et al.
European journal of human genetics : EJHG, 2018, 26, 1, p 94
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers RJLF, van der Vliet PJ, Vreijling JP, et al.
Human molecular genetics, 2018, 27, 20, p 3488
Adding quantitative muscle MRI to the FSHD clinical trial toolbox
Mul K, Mul K, Vincenten SCC, et al.
Neurology, 2017, 89, 20, p 2057
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard ML, Lemmers RJ, Balog J, et al.
American journal of human genetics, 2016, 98, 5, p 1020
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
Balog J, Thijssen PE, Shadle S, et al.
Epigenetics, 2015, 10, 12, p 1133
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 RJLF, Camano P, et al.
European journal of human genetics : EJHG, 2015, 24, 1, p 78
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Lemmers RJ, Goeman JJ, van der Vliet PJ, et al.
Human molecular genetics, 2015, 24, 3, p 659
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
Sacconi S, Lemmers RJLF, Balog J, et al.
American journal of human genetics (The), 2013, 93, 4, p. 744-751
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers RJ, Tawil R, Petek LM, et al.
Nature genetics, 2012, 44, 12, p. 1370-1374
A unifying genetic model for facioscapulohumeral muscular dystrophy
Lemmers RJLF, van der Vliet PJ, Klooster R, et al.
Science, 2010, 329, 5999, p. 1650-1653
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
Lemmers RJLF, Wohlgemuth M, van der Gaag KJ, et al.
American journal of human genetics (The), 2007, 81, 5, p. 884-894
