Publications
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013 ;50(10):674-88.
. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 ;54(6):4158-66.
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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. Hum Mol Genet. 2016 ;25(8):1479-88.
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Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. .
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Systematic assessment of the contribution of structural variants to inherited retinal diseases. Hum Mol Genet. 2023 ;32(12):2005-2015.
. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013 ;8(1):e51622.
. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 ;54(6):4158-66.
. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet. 2009 ;41(6):739-45.
. .
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
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