Antje Bernd

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

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 et al. · European Journal of Human Genetics · 2013 · 244 citations · Full text

Ocular Disease, Panel-based Next Generation, Mendelian Disorder +9

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

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau et al. · Journal of Clinical Investigation · 2010 · 242 citations · Full text

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 et al. · Human Mutation · 2020 · 132 citations · Full text

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

Alejandro Estrada‐Cuzcano, Robert K. Koenekoop, Frauke Coppieters et al. · Investigative Ophthalmology & Visual Science · 2010 · 113 citations · Full text