P. F. Chance

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 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

V A Street, Craig L. Bennett, Jeff Goldy et al. · Neurology · 2003 · 197 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in 3 genes (<i>MKS3</i>, <i>CC2D2A</i> and <i>RPGRIP1L</i>) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, Melissa A. Parisi, Laura S. Finn et al. · Journal of Medical Genetics · 2009 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Autosomal dominant juvenile amyotrophic lateral sclerosis

Bruce A. Rabin, John W. Griffin, Barbara J. Crain et al. · Brain · 1999 · 123 citations · Full text

Medicine, Neurology, Neuroscience +17

Trisomy 17p associated with Charcot‐Marie‐Tooth neuropathy type 1A phenotype

P. F. Chance, Thomas D. Bird, Norisada Matsunami et al. · Neurology · 1992 · 89 citations

Life Sciences, Genetics, Neurology +14