Robert K. Koenekoop

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Audrey Sénéćhal et al. · Archives of Ophthalmology · 2012 · 126 citations

Life Sciences, Genetics, Ophthalmology +12

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Karsten Boldt, Dorus A. Mans, Jungyeon Won et al. · Journal of Clinical Investigation · 2011 · 109 citations · Full text

Life Sciences, Cell Biology, Genetics +15

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Rivka A. Rachel, Helen May‐Simera, Shobi Veleri et al. · Journal of Clinical Investigation · 2012 · 80 citations · Full text

Medicine, Genetics, Molecular Genetics +15

A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12

John Kerrison, Véronique J. Arnould, M. Michael Barmada et al. · Genomics · 1996 · 58 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

John Kerrison, Robert K. Koenekoop, Véronique J. Arnould et al. · American Journal of Ophthalmology · 1998 · 52 citations · Full text

Medicine, Genetics, Ophthalmology +17