Ronald Roepman

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 · 390 citations · Full text

Genome Instability, Linking Renal Ciliopathies, Cep164 Mutations +6

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H. Arts, Dan Doherty, Sylvia E. C. van Beersum et al. · Nature Genetics · 2007 · 321 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Edgar A. Otto, Toby W. Hurd, Rannar Airik et al. · Nature Genetics · 2010 · 318 citations · Full text

Ocular Disease, Retina, Ophthalmology +6

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 · 274 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +5

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

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu et al. · Nature Communications · 2016 · 255 citations · Full text