Birgit Lorenz

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Tim M. Strom, Gerald Nyakatura, Eckart Apfelstedt-Sylla et al. · Nature Genetics · 1998 · 500 citations

L-type Calcium-channel Gene, Channelopathies, Developmental Biology +6

Positional cloning of the gene associated with X-linked juvenile retinoschisis

Christian Sauer, Andrea Gehrig, Regina Warneke-Wittstock et al. · Nature Genetics · 1997 · 492 citations

Biology, Developmental Genetics, Genetics +5

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)

A Meindl, Katherine L. Dry, Karin A. Herrmann et al. · Nature Genetics · 1996 · 479 citations

Exchange Factor, Rcc1 Guanine, Natural Sciences +11

Mutation spectrum and splicing variants in the OPA1 gene

Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan et al. · Human Genetics · 2001 · 379 citations

Somatic Variant, Genetics, Molecular Genetics +5

A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Andrea Rivera, Karen L. White, Heidi Stöhr et al. · The American Journal of Human Genetics · 2000 · 336 citations · Full text

Ocular Disease, Ophthalmology, Comprehensive Survey +9