Jin S. Lee
Seoul, Republic of Korea
Last Updated: 09/26/2026
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Found 46 publications
Anti-SRP immune-mediated necrotizing myopathy from childhood to adulthood: A case series highlighting rituximab-responsive disease.
Journal: Journal of neuromuscular diseases
Published: August 19, 2026
Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.
Journal: European journal of human genetics : EJHG
Published: March 10, 2026
Case Report: Epileptic phenotype in a patient with a MARK2 variant: the first detailed description and review of the literature.
Journal: Frontiers in pediatrics
Published: December 16, 2025
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.
Journal: Human molecular genetics
Published: November 07, 2025
Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder.
Journal: European journal of human genetics : EJHG
Published: September 20, 2025
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.
Journal: Communications biology
Published: September 06, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Journal: Genome medicine
Published: November 08, 2024
Effects of heterozygous SMG1 mutations on nonsense-mediated mRNA decay in human pluripotent stem cell model.
Journal: Molecules and cells
Published: November 06, 2024
Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint.
Journal: Genomics & informatics
Published: September 03, 2024
Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma.
Journal: Computers in biology and medicine
Published: June 20, 2022
Last Updated: 09/26/2026