Rita Shiang

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

Genetic Diseases, Genome Instability, Novel Gene +10

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

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

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sami S. Amr, Cindy Heisey, Min Zhang et al. · The American Journal of Human Genetics · 2007 · 281 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7