Robert C. Polomeno

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Julie M. Bork, Linda Peters, Saima Riazuddin et al. · The American Journal of Human Genetics · 2001 · 551 citations · Full text

Developmental Biology, Allelic Mutations, Mendelian Disorder +7

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

N. Torben Bech‐Hansen, Margaret J. Naylor, Tracy A. Maybaum et al. · Nature Genetics · 2000 · 349 citations

Ocular Disease, Developmental Biology, Ophthalmology +6

Optic pathway gliomas in patients with neurofibromatosis type 1: Follow-up of 44 patients

Laura Segal, Mahshad Darvish-Zargar, Marie-Emmanuelle Dilenge et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 2010 · 91 citations

Neuro-oncology, Ophthalmology, Optic Pathway Gliomas +9

The Okihiro syndrome of duane anomaly, radial ray abnormalities, and deafness

Ailish Hayes, Teresa Costa, Robert C. Polomeno et al. · American Journal of Medical Genetics · 1985 · 62 citations

The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application

Marianne Rufiange, Justine Dassa, Olga Dembinska et al. · Vision Research · 2003 · 56 citations

Medical Imaging, Ophthalmology, Physiological Optic +5