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Found 103 Results

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Mol Neurodegener

Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis

May 20, 2025

Ann Lab Med

Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans

January 1, 2025

BMC Endocr Disord

Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene

April 15, 2024

Am J Med Genet B Neuropsychiatr Genet

KCNJ3 is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia identified using whole genome sequencing

April 10, 2024

Diagnostics (Basel)

Whole-Exome Sequencing and Analysis of the T Cell Receptor β and γ Repertoires in Rheumatoid Arthritis

March 1, 2024

J Neuroinflammation

Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia

February 13, 2024

Ann Pediatr Endocrinol Metab

Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation

January 28, 2024

Neurol Genet

Novel In-Frame Deletion CNOT3 Variant in a Family With Intellectual Developmental Disorder With Speech Delay and Dysmorphic Facies

January 3, 2024

Front Genet

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population

December 1, 2023

Sci Rep

An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data

November 1, 2023

Featured Presentations

AACR 2023

Deep learning algorithm for cancer detection using multimodal characteristics of whole methylome sequencing of cf-DNA

AACR 2022

Deep Learning Algorithm for Multi-cancer Detection and Classification using cf-WGS

ESMO 2022

Deep Learning-based Multimodal Ensemble Algorithms for Multi-cancer Detection