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Article

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

Human mutation - 1 Sept 2020

Weisschuh Nicole, Obermaier Carolin D, Battke Florian, Bernd Antje, Kuehlewein Laura, Nasser Fadi, Zobor Ditta, Zrenner Eberhart, Weber Eva, Wissinger Bernd, Biskup Saskia, Stingl Katarina, Kohl Susanne

Abstract excerpt

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A cohort of 2,158 affected patients from 1,785 families diagnosed with IRD was analyzed by targeted next-generation sequencing (NGS). Patients with single-gene disorders (i.e., choroideremia and retinoschisis) were analyzed by Sanger...

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PMID: 32531858
DOI: 10.1002/humu.24064

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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