Publications by authors named "Jihoon Yoon"

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The landscape of allele-specific expression in human kidneys.
Ana C Onuchic-Whitford, Junmo Sung, Eric D Sakkas, Michelle T McNulty, Christopher L O'Connor, Jihoon G Yoon

bioRxiv· December 2025

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A Duplex qPCR Assay Targeting the Gene Enables Robust Detection of in Clinical Samples.
Yurin Seo, Kyung-A Kim, Suho Lee, Yujin H Lim, Yura Seo, Yoon Dae Han, Jihoon G Yoon

Int J Mol Sci· November 2025

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Impacts of population ageing on bloodstream infection epidemiology and outcomes: A machine learning and statistical modelling study.
Min Hyuk Choi, Dokyun Kim, Jihoon Yoon, Seok Hoon Jeong

Int J Infect Dis· October 2025

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Leptin and Adiponectin as Uremic Adipokines: Associations with Survival in a Prospective Hemodialysis Cohort.
Thuy-Anh V Bui, Amy S You, Sara S Kalantar, Jihoon Yoon, Yoko Narasaki

Toxins (Basel)· October 2025

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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Jihoon G Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Ki-Jun Yoon

Genome Med· August 2025

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Sleep Patterns, Symptoms, and Mortality in Hemodialysis: A Prospective Cohort Study.
Yoko Narasaki, Amy S You, Ira Kurtz, Niloofar Nobakht, Mohammad Kamgar, Jihoon Yoon

Kidney Med· April 2025

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Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
Jihoon G Yoon, Seungbok Lee, Soojin Park, Se Song Jang, Jaeso Cho

BMC Med Genomics· March 2025

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Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Jung Woo Yu, Jihoon G Yoon, Chaerim Han, Shin Hye Noh, Dong Min Shin

JCI Insight· February 2025

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients.
Yongmoo Kim, Seungbok Lee, Jae So Cho, Jihoon G Yoon, Sheehyun Kim

J Mov Disord· January 2025

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Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Jong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim

NPJ Genom Med· November 2024

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Syndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.
Jihoon G Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee

Clin Genet· August 2024

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Broadening the scope of multigene panel analysis for adult epilepsy patients.
Seungbok Lee, Mi-Kyoung Kang, Ki Hurn So, Riyul Jang, Yong Woo Shin, Jihoon G Yoon

Epilepsia Open· August 2024

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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho

Am J Hum Genet· August 2024

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Prevalence and Characterization of GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim

Neurol Genet· June 2024

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Multi-locus pathogenic variation identified in a patient with craniosynostosis.
Jihoon G Yoon, Jung Woo Yu, Kyu Won Shim, Yong Oock Kim, Min Goo Lee

Am J Med Genet A· May 2024

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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.
Jihoon G Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim

Eur J Hum Genet· May 2024

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Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase.
Bora Jin, Jihoon G Yoon, Aryun Kim, Jangsup Moon, Han-Joon Kim

Neurol Genet· April 2024

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Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity.
Jihoon G Yoon, Dong Geon Jang, Sung-Gyu Cho, Chaeyoung Lee, Shin Hye Noh, Ho Joo Yoon

Exp Mol Med· March 2024

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Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim

Clin Exp Pediatr· January 2024

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Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort.
Young Jun Ko, Soo Yeon Kim, Seungbok Lee, Jihoon G Yoon, Man Jin Kim

Front Neurol· August 2023

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Expansion of clinico-genetic spectrum of disease: a literature review with two additional cases.
Jaeso Cho, Jihoon G Yoon, Seungbok Lee, Sheehyun Kim, Soo Yeon Kim

Brain Commun· August 2023

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Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
Man Jin Kim, Sheehyun Kim, Seung Won Chae, Seungbok Lee, Jihoon G Yoon

J Hum Genet· June 2023

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De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia.
Jae Young Joo, Jihoon G Yoon, Seoungbok Lee, Jangsup Moon, Han-Joon Kim

Mov Disord· February 2023

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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Hyoshin Son, Jihoon G Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim

J Mov Disord· January 2023

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