Maria A. Musarella

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

Bech-Hansen Nt, Ben F. Koop, M. B. Mets et al. · Nature Genetics · 1998 · 518 citations

Life Sciences, Genetics, Molecular Genetics +14

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 · 352 citations

Medicine, Genetics, Ophthalmology +12

Mutations in MKKS cause Bardet-Biedl syndrome

Anne Slavotinek, Edwin M. Stone, Kirk Mykytyn et al. · Nature Genetics · 2000 · 270 citations

Life Sciences, Genetics, Molecular Genetics +8

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 · 246 citations · Full text

Medicine, Genetics, Molecular Genetics +12

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 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11