Yazhen Zhu

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

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription

Joan S. Steffan, Aleksey Kazantsev, Olivera Spasić-Bošković et al. · Proceedings of the National Academy of Sciences · 2000 · 1K citations

SUMO Modification of Huntingtin and Huntington's Disease Pathology

Joan S. Steffan, Namita Agrawal, Judit Pallos et al. · Science · 2004 · 704 citations · Full text

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson et al. · Nature Genetics · 1995 · 605 citations

Thanatophoric Dysplasia, Fibrosis, Mendelian Disorder +8

Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Rita Shiang, Stephen G. Ryan, Yazhen Zhu et al. · Nature Genetics · 1993 · 551 citations

Clinical Disorders, α1 Subunit, Neurobiology Of Disease +12