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JAMA Ophthalmology|December 16, 2021
Enablers and Barriers to Deployment of Smartphone-Based Home Vision Monitoring in Clinical Practice SettingsEdward Korot, Nikolas Pontikos, Faye M Drawnel, et al.
JAMA Ophthalmology|June 28, 2019
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association StudyAnthony P Khawaja, Karla E Rojas Lopez, Alison J Hardcastle, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 3, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype associationKaoru Fujinami, Xiao Liu, Shinji Ueno, et al.
Investigative Ophthalmology & Visual Science|August 8, 2019
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic AppearanceShuhei Kameya, Kaoru Fujinami, Shinji Ueno, et al.
Ophthalmology|May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United KingdomNikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina|January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom CohortSiying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
BMC Genomics|April 12, 2014
A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samplesNikolas Pontikos, Deborah J Smyth, Helen Schuilenburg, et al.
Investigative Ophthalmology & Visual Science|January 24, 2024
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4Yu Fujinami-Yokokawa, Kwangsic Joo, Xiao Liu, et al.
Ophthalmology Science|January 23, 2023
SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal DiseaseYoga Advaith Veturi, William Woof, Teddy Lazebnik, et al.
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