Publications
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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 ;17(4):262-70.
. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019 ;19(1):246.
. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 ;37(3):246-9.
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