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

Life Sciences, Genetics, Molecular Genetics +13

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 · 413 citations

Medicine, Genetics, Molecular Genetics +7

<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 · 375 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 328 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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 · 266 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14