Concepedia

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

Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog, Patrick J. van der Vliet, Pauline Lahaut, Merlijn P. van Nieuwenhuizen, Kirsten R. Straasheijm, Rashmie D. Debipersad, Marianne Vos-Versteeg, Leonardo Salviati,

The American Journal of Human Genetics · 2013 · 189 citations · 44 references

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44

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 783 citations · Full text

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 685 citations

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

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek et al. · Nature Genetics · 2012 · 664 citations

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FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Judith C. T. van Deutekom, Cisca Wljmenga, Esther A.E.Van Tlenhoven et al. · Human Molecular Genetics · 1993 · 533 citations

, , +17

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Lauren Snider, Linda N. Geng, Richard J.L.F. Lemmers et al. · PLoS Genetics · 2010 · 494 citations · Full text

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