Machteld M. Oud

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 259 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +16

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud et al. · The American Journal of Human Genetics · 2011 · 237 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Isabelle Perrault, Sophie Saunier, Sylvain Hanein et al. · The American Journal of Human Genetics · 2012 · 217 citations · Full text

Life Sciences, Genetics, Molecular Genetics +3

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