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 · 504 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Christian Sauer, Andrea Gehrig, Regina Warneke-Wittstock et al. · Nature Genetics · 1997 · 497 citations

Medicine, Genetics, Molecular Genetics +12

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 · 480 citations

Medicine, Genetics, Molecular Genetics +2

Mutation spectrum and splicing variants in the OPA1 gene

Cécile Delettre, Jean‐Michel Griffoin, Josseline Kaplan et al. · Human Genetics · 2001 · 380 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 341 citations · Full text

Medicine, Genetics, Molecular Genetics +10