Markus N. Preising

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy et al. · The American Journal of Human Genetics · 2009 · 250 citations · Full text

Ophthalmology, Genetic Disorder, Genetics +2

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

Birgit Lorenz, P Gyürüs, Markus N. Preising et al. · PubMed · 2000 · 197 citations

Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles

Jana Zernant, Maigi Ku ̈lm, Sharola Dharmaraj et al. · Investigative Ophthalmology & Visual Science · 2005 · 176 citations

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65

Birgit Lorenz, Bettina Wabbels, Erika Wegscheider et al. · Ophthalmology · 2004 · 160 citations

Ocular Disease, Retina, Photoreceptor Cell +8