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

Isabelle Audo, Susanne Kohl, Bart P. Leroy, +27

The American Journal of Human Genetics

OphthalmologyGenetic DisorderGeneticsTrpm1 Is MutatedMedicine

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Nicola Glöckle, Susanne Kohl, Julia Mohr, +12

European Journal of Human Genetics

Ocular DiseasePanel-based Next GenerationMendelian DisorderOphthalmologyGenetic Disorder +7

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, +16

Journal of Clinical Investigation

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

Nicole Weisschuh, Carolin D. Obermaier, Florian Battke, +10

Human Mutation

<i>IQCB1</i>Mutations in Patients with Leber Congenital Amaurosis

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Frauke Coppieters, +16

Investigative Ophthalmology & Visual Science

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, +21

PLoS ONE

EngineeringGeneticsMutation DetectionGenetic EpidemiologyPathology +17

Fourier Analysis of Scanning Laser Polarimetry Measurements with Variable Corneal Compensation in Glaucoma

Felipe A. Medeiros, Linda M. Zangwill, Christopher Bowd, +2

Investigative Ophthalmology & Visual Science

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

Veronique Kitiratschky, Tanja Grau, Antje Bernd, +10

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyDegenerative Disease +7

Limitations of imaging choroidal tumors in vivo by optical coherence tomography

U. Schaudig, A. Hassenstein, Antje Bernd, +2

Graefe s Archive for Clinical and Experimental Ophthalmology

Tissue ImagingEngineeringOphthalmologyMedical ImagingBiomedical Imaging +6

Using Unsupervised Learning with Variational Bayesian Mixture of Factor Analysis to Identify Patterns of Glaucomatous Visual Field Defects

Pamela A. Sample, Kwokleung Chan, Catherine Boden, +8

Investigative Ophthalmology & Visual Science