Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <i>C1QTNF5</i> Missense Variant

by Ulrich Kellner, Nicole Weisschuh, Silke Weinitz, Ghazaleh Farmand, Sebastian Deutsch, Friederike Kortüm, Pascale Mazzola, Karin Schäferhoff, Valerio Marino, Daniele Dell’Orco
Published 2021-02-01

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

by Nicole Weisschuh, Simone Schimpf-Linzenbold, Pascale Mazzola, Sinja Kieninger, Ting Xiao, Ulrich Kellner, Teresa Neuhann, Carina Kelbsch, Felix Tonagel, Helmut Wilhelm, Susanne Kohl, Bernd Wissinger
Published 2021-01-01

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the <i>BEST1</i> Gene

by Karsten Hufendiek, Katerina Hufendiek, Herbert Jägle, Heidi Stöhr, Marius Book, Georg Spital, Günay Rustambayova, Carsten Framme, Bernhard H. F. Weber, Agnes B. Renner, Ulrich Kellner
Published 2020-12-01

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

by Anna-Lena Nachtigal, Andrea Milenkovic, Caroline Brandl, Heidi L. Schulz, Lisa M. J. Duerr, Gabriele E. Lang, Charlotte Reiff, Philipp Herrmann, Ulrich Kellner, Bernhard H.F. Weber
Published 2020-02-01

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

by Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Published 2016-01-01