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- 2016
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
- 2015
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
- 2014
- Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2
- 2013
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
- Mutations in IMPG1 cause vitelliform macular dystrophies
- 2012
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
- 2007
- Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?