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- 2014
- Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
- 2013
- Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction
- 2012
- Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
- A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
- 2009
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders