Publications
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 ;23(12):1689-93.
. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 ;24(5):660-5.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
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