Hester Y. Kroes

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

Life Sciences, Genetics, Molecular Genetics +8

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Paulien A. Terhal, Marie-José van den Bogaard et al. · The American Journal of Human Genetics · 2006 · 212 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg et al. · Genetics in Medicine · 2016 · 185 citations · Full text

Life Sciences, Genetics, Pediatrics +16

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 151 citations · Full text

Medicine, Genetics, Molecular Genetics +15