Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

<i>Tcof1</i> /Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

Jill Dixon, N C Jones, Linda J. Sandell et al. · Proceedings of the National Academy of Sciences · 2006 · 379 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

The Treacher Collins syndrome ( <i>TCOF1</i> ) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

Benigno C. Valdez, Dale Henning, Rolando B. So et al. · Proceedings of the National Academy of Sciences · 2004 · 304 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner · Human Mutation · 2005 · 255 citations

Life Sciences, Bioinformatics, Genetics +14

Modeling stochastic gene expression: Implications for haploinsufficiency

Daniel L. Cook, Anthony N. Gerber, Stephen J. Tapscott · Proceedings of the National Academy of Sciences · 1998 · 247 citations

Life Sciences, Biology, Genetics +13

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 181 citations

Life Sciences, Genetics, Molecular Genetics +14