Concepedia

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen,

The American Journal of Human Genetics · 2016 · 110 citations · 40 references

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40

Geneious Basic: An integrated and extendable desktop software platform for the organization and analysis of sequence data

Matthew D. Kearse, Richard Moir, Amy Wilson et al. · Bioinformatics · 2012 · 20.8K citations · Full text

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Nature · 2008 · 7.8K citations · Full text

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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

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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

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 934 citations

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