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Catherine Vovan

10

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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

2019 Neurology Genetics
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

2019 Journal of Medical Genetics
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

2017 Human Mutation
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

2016 BMC Medical Genetics
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Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy

2015
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

2015 Human Mutation
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

2014 Neurology
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Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype

2012
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O.6 Beyond counting copies: direct visualization of copy number variations in a specific genomic context to explore facio-scapulo-humeral dystrophy (FSHD)

2010 Neuromuscular Disorders
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