Ulrich Kellner

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

P. Sieving, L. Sharpe, E. Zrenner, 2000, Human molecular genetics.

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

E. Zrenner, B. Jurklies, B. Wissinger, 2001, Human molecular genetics.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.