Nicholas T. Gorden

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

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps et al. · Journal of Medical Genetics · 2015 · 293 citations · Full text

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Nicholas T. Gorden, Heleen H. Arts, Melissa A. Parisi et al. · The American Journal of Human Genetics · 2008 · 227 citations · Full text

Molecular Neuroscience, Joubert Syndrome, Medicine +7

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 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma

Jennifer D. Hintzsche, Nicholas T. Gorden, Carol M. Amato et al. · Melanoma Research · 2017 · 177 citations · Full text

Tumor Biology, Mucosal Melanoma, Medicine +14