Ulrike Orth

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Andreas Gal, Yun Li, Debra A. Thompson et al. · Nature Genetics · 2000 · 655 citations

Ocular Disease, Retina, Photoreceptor Cell +7

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Kerstin Kutsche, Helger G. Yntema, Alexander Brandt et al. · Nature Genetics · 2000 · 370 citations

Exchange Factor, Mendelian Disorder, Rho Gtpases +9

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

Andreas Gal, Ulrike Orth, Wolfgang Baehr et al. · Nature Genetics · 1994 · 243 citations

Ocular Disease, Molecular Neuroscience, Retina +11

Human monoamine oxidase A and B genes map to xp11.23 and are deleted in a patient with norrie disease

Nancy C. Lan, Camilla Heinzmann, Andreas Gal et al. · Genomics · 1989 · 202 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +9

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Isabella Wimplinger, Manuela Morleo, Georg Rosenberger et al. · The American Journal of Human Genetics · 2006 · 161 citations · Full text

Skin Development, Mendelian Disorder, Genetic Disorder +8