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Optical genome mapping for the molecular diagnosis of facioscapulohumeral muscular dystrophy
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
DUX4 expression in cancer induces a metastable early embryonic totipotent program
Neuromuscular disease genetics in under-represented populations
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
Adding quantitative muscle MRI to the FSHD clinical trial toolbox
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution
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