Suzanne Rix

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 397 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Life Sciences, Genetics, Molecular Genetics +5

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel, Virginie Laurier, Erica E. Davis et al. · Nature Genetics · 2006 · 286 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

CiliaCarta: An integrated and validated compendium of ciliary genes

Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee et al. · PLoS ONE · 2019 · 175 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger et al. · Human Mutation · 2013 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17