2018
Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion.
Shah S, Koban Y, Le BHA, Bechtold M, Zolfaghari E, Kim JW, Berry JL. Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion. Journal Of Pediatric Ophthalmology & Strabismus 2018, 55: e10-e13. PMID: 29684226, PMCID: PMC7444716, DOI: 10.3928/01913913-20180215-02.Peer-Reviewed Original ResearchChromosome DeletionChromosome DisordersChromosomes, Human, Pair 13Diagnosis, DifferentialDNA Mutational AnalysisDNA, NeoplasmFemaleFluorescein AngiographyFundus OculiHumansInfantIrisIris DiseasesMagnetic Resonance ImagingMutationPigmentation DisordersRetinoblastomaRetinoblastoma Binding ProteinsTomography, Optical CoherenceUbiquitin-Protein Ligases
2017
Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma.
Berry JL, Xu L, Murphree AL, Krishnan S, Stachelek K, Zolfaghari E, McGovern K, Lee TC, Carlsson A, Kuhn P, Kim JW, Cobrinik D, Hicks J. Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. JAMA Ophthalmology 2017, 135: 1221-1230. PMID: 29049475, PMCID: PMC5710399, DOI: 10.1001/jamaophthalmol.2017.4097.Peer-Reviewed Original ResearchConceptsTumor-derived DNACell-free DNARB eyesIntravitreous injectionAqueous humorAH samplesCopy number variationsSalvage therapyRB1 mutationsTumor biopsiesNumber variationsTertiary care hospitalCase series studyDNA copy number variationsDNA copy number alterationsCopy number variation profilesHigh-sensitivity kitChromosomal copy number variationsTumor DNA fractionPolymerase chain reaction primersWhole-genome sequencingPrimary enucleationCare hospitalDisease courseNumber variation profiles