| 2024 | Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases | JAMA NETWORK OPEN |
| 2024 | Risk of central nervous system demyelinating attack or optic neuritis recurrence after pediatric optic neuritis in Korea | NEUROLOGICAL SCIENCES |
| 2024 | Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea
| MOLECULAR VISION |
| 2023 | PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2023 | Efficacy of part-time patching in preventing recurrence after bilateral lateral rectus recession in children with intermittent exotropia
| BMC OPHTHALMOLOGY |
| 2023 | Neuro-Ophthalmic Adverse Events of COVID-21 Infection and Vaccines: A Nationwide Cohort Study
| INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE |
| 2023 | Bickerstaff's brainstem encephalitis: a rare case of neurologic complication in Ulcerative Colitis
| BMC NEUROLOGY |
| 2023 | Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin
| FRONTIERS IN GENETICS |
| 2023 | Clinical and Genetic Findings in Korean Patients with Choroideremia
| Korean Journal of Ophthalmology |
| 2023 | The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing | OPHTHALMIC GENETICS |
| 2023 | Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans
| GENES |
| 2023 | Correlation between bilateral lateral rectus muscle recession and myopic progression in children with intermittent exotropia
| SCIENTIFIC REPORTS |
| 2023 | Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
| Korean Journal of Ophthalmology |
| 2023 | Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia | AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| 2023 | Clinical and Genetic Features of Korean Patients with Achromatopsia | GENES |
| 2023 | Retinal Proteome Analysis Reveals a Region-Specific Change in the Rabbit Myopia Model
| INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES |
| 2022 | Factors Related to Axial Length Elongation in Myopic Children Who Received 0.05% Atropine Treatment | JOURNAL OF OCULAR PHARMACOLOGY AND THERAPEUTICS |
| 2022 | Characteristics of Optic Neuritis in South Korean Children and Adolescents: A Retrospective Multicenter Study
| JOURNAL OF OPHTHALMOLOGY |
| 2022 | Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy
| FRONTIERS IN NEUROLOGY |
| 2022 | Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy
| GENES |
| 2022 | Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study
| OPHTHALMOLOGY |
| 2022 | Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus
| TRANSLATIONAL VISION SCIENCE & TECHNOLOGY |
| 2022 | 머리 부분 탑재형 디스플레이를 이용한 입체시검사법
| JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY(대한안과학회지) |
| 2022 | Factors Associated With Abducens Nerve Palsy in Patients Undergoing Surgery for Petroclival Meningiomas | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2022 | Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
| GENES |
| 2021 | Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients | OPHTHALMOLOGY RETINA |
| 2021 | 편측 상사근마비에서 상사시 각도에 따른 단일 하사근절제술의 치료 효과 및 유용성
| JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY(대한안과학회지) |
| 2021 | Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1
| GENES |
| 2021 | Clinical utility gene card for FRMD7-related infantile nystagmus | EUROPEAN JOURNAL OF HUMAN GENETICS |
| 2021 | Short Stature With Optic Atrophy and Cone Dystrophy | JAMA OPHTHALMOLOGY |
| 2021 | Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
| Korean Journal of Ophthalmology |
| 2021 | Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis | OPHTHALMOLOGY RETINA |
| 2021 | DYNC2H1 variants cause Leber congenital amaurosis without syndromic features | CLINICAL GENETICS |
| 2021 | In Silico identification of a common mobile element insertion in exon 4 of RP1
| SCIENTIFIC REPORTS |
| 2021 | Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients
| GENES |
| 2021 | Retinitis Pigmentosa with Epiretinal Neovascularization at the Macula | OPHTHALMOLOGY RETINA |
| 2021 | TUBB3 M323V Syndrome Presents with Infantile Nystagmus
| GENES |
| 2021 | Nationwide population-based incidence and etiologies of pediatric and adult Horner syndrome | JOURNAL OF NEUROLOGY |
| 2021 | RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2021 | Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutations | JOURNAL OF HUMAN GENETICS |
| 2020 | 밀러-피셔증후군과 비커스태프 뇌줄기염의 임상적 특징
| Annals of Optometry and Contact Lens (검안 및 콘택트렌즈학회지) |
| 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization
| HUMAN MOLECULAR GENETICS |
| 2020 | Comparison of surgical outcomes between lateral rectus recession and medial rectus advancement for postoperative consecutive exotropia
| MEDICINE |
| 2020 | 편측 상사근마비에서 자기공명영상으로 측정한 상사근 단면적과 임상양상과의 연관성
| JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY |
| 2020 | Accuracy of the Hand-held Wavefront Aberrometer in Measurement of Refractive Error
| Korean Journal of Ophthalmology |
| 2020 | Clinical and Optic Disc Characteristics of Patients Showing Visual Recovery in Leber Hereditary Optic Neuropathy | JOURNAL OF NEURO-OPHTHALMOLOGY |
| 2020 | Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
| MOLECULAR VISION |
| 2020 | Risk factors associated with poor outcome after medial rectus resection for recurrent intermittent exotropia | GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY |
| 2020 | Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis
| STEM CELL RESEARCH |
| 2020 | Population-based Incidence of Pediatric and Adult Optic Neuritis and the Risk of Multiple Sclerosis | OPHTHALMOLOGY |
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