Publications
Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 ;134(10):1069-78.
. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 ;37(3):246-9.
. Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 ;25(8):1479-88.
. ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement. Invest Ophthalmol Vis Sci. 2015 ;56(6):3889-95.
. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. Am J Hum Genet. 2017 ;100(4):592-604.
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