Publications
Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling. Nat Commun. 2019 ;10(1):5743.
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Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
. Pigmentary Maculopathy Associated with Chronic Exposure to Pentosan Polysulfate Sodium. Ophthalmology. 2018 ;125(11):1793-1802.
. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019 ;39(10):2040-2052.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. BMC Ophthalmol. 2019 ;19(1):246.
. Mapping the -regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 ;117(16):9001-9012.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. Retina. 2019 ;39(10):2040-2052.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. Dual regulation and redundant function of two eye-specific enhancers of the Drosophila retinal determination gene dachshund. Development. 2005 ;132(12):2895-905.
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