Sara T. Winokur

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Biology, Mendelian Disorder, Genetic Disorder +8

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Petra G.M. van Overveld, Richard J F L Lemmers, Lodewijk A. Sandkuijl et al. · Nature Genetics · 2003 · 404 citations

Genetics, Molecular Biology, Degenerative Disease +2

<i>DUX4</i> , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of <i>PITX1</i>

Manjusha Dixit, Eugénie Ansseau, Alexandra Tassin et al. · Proceedings of the National Academy of Sciences · 2007 · 368 citations · Full text

Transcriptional Regulation, Facioscapulohumeral Muscular Dystrophy, Developmental Biology +13

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

Marina Bakay, Zuyi Wang, Gisela Melcon et al. · Brain · 2006 · 323 citations · Full text

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

Weihua Zeng, Jessica C. de Greef, Yen-Yun Chen et al. · PLoS Genetics · 2009 · 262 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +19