Maria A. Musarella

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

Mutations in MKKS cause Bardet-Biedl syndrome

Anne Slavotinek, Edwin M. Stone, Kirk Mykytyn et al. · Nature Genetics · 2000 · 269 citations

Mendelian Disorder, Genetic Disorder, Genetics +3

A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

Debra K. Breuer, Beverly M. Yashar, Elena V. Filippova et al. · The American Journal of Human Genetics · 2002 · 245 citations · Full text

North American Cohort, Mendelian Disorder, Genetic Disorder +10

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Seung‐Taek Lee, Robert D. Nicholls, Sarah Bundey et al. · New England Journal of Medicine · 1994 · 231 citations · Full text

Dystrophin expression in the human retina is required for normal function as defined by electroretinography

De‐Ann M. Pillers, Dennis E. Bulman, Richard G. Weleber et al. · Nature Genetics · 1993 · 161 citations

Ganglion Cell, Retina, Human Retina +11