Youngha Lee
Seoul, Republic of Korea
Last Updated: 09/26/2026
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Found 14 publications
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.
Journal: Communications biology
Published: September 06, 2025
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Journal: Nature communications
Published: October 15, 2020
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
Journal: Journal of hepatology
Published: August 24, 2020
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Journal: Clinical genetics
Published: November 27, 2019
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Journal: Scientific reports
Published: July 29, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Journal: Brain : a journal of neurology
Published: July 05, 2019
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.
Journal: Journal of medical genetics
Published: June 03, 2019
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Journal: Orphanet journal of rare diseases
Published: November 28, 2018
IL23-Producing Human Lung Cancer Cells Promote Tumor Growth via Conversion of Innate Lymphoid Cell 1 (ILC1) into ILC3.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: October 22, 2018
Last Updated: 09/26/2026