Mutation spectrum and phenotypic manifestation in FSHD Greek patients

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 756 citations · Full text

Facioscapulohumeral Muscular Dystrophy, Developmental Biology, Mendelian Disorder +10

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Cisca Wijmenga, Jane Hewitt, Lodewijk A. Sandkuijl et al. · Nature Genetics · 1992 · 662 citations

Chromatin, Mendelian Disorder, Genetic Disorder +6

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 · 525 citations

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Lauren Snider, Linda N. Geng, Richard J.L.F. Lemmers et al. · PLoS Genetics · 2010 · 479 citations · Full text

Skeletal Muscle Cells, Transcriptional Regulation, Mendelian Disorder +12