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Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome
2025Pediatric Blood & CancerChang-Ahn Seol
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Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders
2025Human GenomicsChang-Ahn Seol
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Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders
2025PLOS OneChang-Ahn Seol
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Copy-number variants of targeted next-generation sequencing panels
2025ASHGChang-Ahn Seol
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The distribution of genetic causes in Korean MODY patients
2025ASHGChang-Ahn Seol
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Regions of Homozygosity Identified with a Chromosomal Microarray in a Korean Population: Distribution, Frequency, and Clinical Interpretation
2025Annals of Laboratory MedicineChang-Ahn Seol
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Novel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia
2025Frontiers in GeneticsChang-Ahn Seol
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Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant
2025 Annals of Clinical & Laboratory ScienceChang-Ahn Seol
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Genetic epidemiology of epithelial-stromal TGFBI dystrophies in a large Korean population
2025Scientific ReportsChang-Ahn Seol
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Genetic counseling in prenatal chromosome test and CMA
2025The 20th Annual Meeting of the Korean Society for Genetic DiagnosticsChang-Ahn Seol
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CNV Analysis in NGS-Based Testing for Genetic Disorders
2024The 7th Annual Meeting of the Interdisciplinary Society of Genetic & Genomic Medicine (2024)Chang-Ahn Seol
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Clinical utility of CytoScan Optima for prenatal diagnosis
2024The 7th Annual Meeting of the Interdisciplinary Society of Genetic & Genomic Medicine (2024)Chang-Ahn Seol
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Copy number variants of targeted next-generation sequencing panels
2024The 7th Annual Meeting of the Interdisciplinary Society of Genetic & Genomic Medicine (2024)Chang-Ahn Seol
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Clinical Application of Chromosomal Microarray for Hematologic Malignancies
2024Journal of Interdisciplinary GenomicsChang-Ahn Seol
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Copy number variants of targeted next-generation sequencing panels
2024KSMGG & EAUHGS 2024Chang-Ahn Seol
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Genetic Diagnosis Utilizing xGen Exome and mtDNA Research Solution
2024The 19th Annual Meeting of the Korean Society for Genetic Diagnostics (2024)Chang-Ahn Seol
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Molecular Genetic Diagnosis of LSD
2024The 19th Annual Meeting of the Korean Society for Genetic Diagnostics (2024)Chang-Ahn Seol
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Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
2024Annals of Pediatric Endocrinology & MetabolismChang-Ahn Seol
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Clinical application of chromosomal microarray for germline disorders
2023Journal of Interdisciplinary GenomicsChang-Ahn Seol
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Clinical Utility of CytoScan Optima in Prenatal Diagnosis
2023Annual Meeting of the Korean Society for Genetic DiagnosticsChang-Ahn Seol
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation
2023Laboratory Medicine OnlineChang-Ahn Seol
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Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part I, General and Prenatal
2023Laboratory Medicine OnlineChang-Ahn Seol
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Application of CMA in Hematologic Malignancy
2023Annual Meeting of the Korean Society for Genetic DiagnosticsChang-Ahn Seol
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Diagnostic Utility of CytoScan Xon Array
2023Annual Meeting of the Korean Society for Genetic DiagnosticsChang-Ahn Seol
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Clinical application of prenatal chromosomal microarray
2022Journal of Genetic MedicineChang-Ahn Seol
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Guidelines for Chromosomal Microarray Testing in Prenatal Abnormalities
2022Symposium of the Korean Society for Genetic DiagnosticsChang-Ahn Seol
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Microarray as a prenatal test
2020Korean Society for Genetic DiagnosticsChang-Ahn Seol
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The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant
2020Am J Med Genet AChang-Ahn Seol
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First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia
2020Ann Lab MedChang-Ahn Seol
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POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients
2019Ann Lab MedChang-Ahn Seol