Concepedia

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

David Johnson, Sharon W. Horsley, Dominique M. Moloney, Michael Oldridge, Stephen R.F. Twigg, Sinéad Walsh, Margaret Barrow, Pål R. Njølstad, Jürgen Kunz, Geraldine J. Ashworth,

The American Journal of Human Genetics · 1998 · 230 citations · 35 references

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35

Genomic sequencing.

George M. Church, W Gilbert · Proceedings of the National Academy of Sciences · 1984 · 8.2K citations · Full text

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

Colette Dib, Sabine Fauré, Cécile Fizames et al. · Nature · 1996 · 3K citations

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Mutations affecting the pattern of the larval cuticle inDrosophila melanogaster

Eric Wieschaus, H. Kluding · Development Genes and Evolution · 1984 · 1.6K citations · Full text

, , +12

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge et al. · Nature Genetics · 1995 · 937 citations

, , +7

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 656 citations

, , +6