Concepedia

WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia

Céline Huber, Sulin Wu, Ashley S. Kim, Sabine Sigaudy, Anna Sarukhanov, Valérie Serre, Geneviève Baujat, Kim‐Hanh Le Quan Sang, David L. Rimoin, Daniel H. Cohn,

The American Journal of Human Genetics · 2013 · 86 citations · 17 references

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17

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

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Decoding Cilia Function

Tomer Avidor‐Reiss, Andreia M Maer, Edmund J. Koundakjian et al. · Cell · 2004 · 512 citations · Full text

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

Philip L. Beales, Elizabeth Bland, Jonathan L. Tobin et al. · Nature Genetics · 2007 · 340 citations · Full text

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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen, Heleen H. Arts, Alexander Hoischen et al. · The American Journal of Human Genetics · 2010 · 279 citations · Full text

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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III

Nathalie Dagoneau, Marie Goulet, David Geneviève et al. · The American Journal of Human Genetics · 2009 · 258 citations · Full text

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