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All papers authored by Jihoon G. Yoon

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2024 Jihoon G. Yoon

ORCID

, Dong Geon Jang, Sung-Gyu Cho

ORCID

, Chaeyoung Lee, Shin Hye Noh, Soo Kyung Seo, Jung Woo Yu, Hyeon Woo Chung, KyeoRe Han, Soon Sung Kwon, Dai Hoon Han

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ORCID

, In-Jin Jang, Sang-Hoon Kim, Young-Koo Jee and 8 other authors

Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity

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Jihoon G. Yoon

ORCID

, Seungbok Lee, Jaeso Cho

ORCID

, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim

ORCID

ORCID

, Jong-Hee Chae

ORCID

Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing

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Jihoon G. Yoon

ORCID

, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H. Poduri, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee

De novo HDAC3variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder

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Jaeso Cho

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ORCID

, Seoungbok Lee, Jihoon G. Yoon

ORCID

ORCID

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ORCID

ORCID

, Jong Hee Chae

ORCID

Expanding association between BICD2 variants and brain malformations and associated lissencephaly

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2023 Jihoon G. Yoon

ORCID

, Jung Woo Yu, Kyu Won Shim

ORCID

, Yong Oock Kim

ORCID

ORCID

Multi‐locus pathogenic variation identified in a patient with craniosynostosis

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Jihoon G. Yoon

ORCID

ORCID

, Yong Jin Kwon

ORCID

, Jong-Hee Chae

ORCID

Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review

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Young Jun Ko, Soo Yeon Kim, Seungbok Lee, Jihoon G. Yoon

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, Man Jin Kim, Hyeji Jun, Hunmin Kim, Jong-Hee Chae, Ki Joong Kim, Kwangsoo Kim, Byung Chan Lim

Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort

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Man Jin Kim, Sheehyun Kim

ORCID

, Seung Won Chae, Seungbok Lee, Jihoon G. Yoon

ORCID

, Boram Kim, Jee-Soo Lee, Jong Hee Chae, Moon-Woo Seong

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, Jangsup Moon

Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia

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Hyoshin Son

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, Jihoon G. Yoon

ORCID

ORCID

ORCID

ORCID

First Cases of Spinocerebellar Ataxia 42 in Two Korean Families

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Jaeso Cho, Jihoon G. Yoon

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, Seungbok Lee, Sheehyun Kim, Soo Yeon Kim, Man Jin Kim, Jangsup Moon, Jong-Hee Chae

Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases

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2022 Jae Young Joo

ORCID

, Jihoon G. Yoon

ORCID

, Seoungbok Lee, Jangsup Moon

ORCID

, Han‐Joon Kim

ORCID

De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia

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Jihoon G. Yoon

ORCID

, Seungbok Lee, Sheehyun Kim

ORCID

ORCID

, Yoon Hwan Chang

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, Jin Kyun Park

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, Dong-Yeop Shin

ORCID

ORCID

The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant

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Soojin Park, Se Song Jang, Seungbok Lee, Minsoo Kim, Hyungtai Sim, Hyeongseok Jeon, Sung Eun Hong, Jean Lee, Jeongeun Lee, Eun Young Jeon, Jeongha Lee, Cho-Rong Lee, Soo Yeon Kim, Man Jin Kim, Jihoon G. Yoon

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and 8 other authors

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

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Seungbok Lee, Se Song Jang, Soojin Park, Jihoon G. Yoon

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, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

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2021 Jihoon G. Yoon

ORCID

, Seung Hwan Song, Sungkyoung Choi

ORCID

, Jaeseong Oh, In-Jin Jang, Young Jin Kim, Sanghoon Moon, Bong-Jo Kim, Yuri Cho, Hyo Kee Kim, Sangil Min, Jongwon Ha, Ho Sik Shin, Chul Woo Yang, Hye Eun Yoon and 4 other authors

Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing

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Jihoon G. Yoon

ORCID

, Min Hwan Kim, Mi Jang, Hoguen Kim, Ho Kyoung Hwang, Chang Moo Kang, Woo Jung Lee, Beodeul Kang, Choong‐kun Lee, Min Goo Lee, Hyun Cheol Chung, Hye Jin Choi, Young Nyun Park

Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses

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2020 Hyounggyoon Yoo, Sang Chun Ji, Joo-Youn Cho, Sang-Heon Kim, Jihoon G. Yoon

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, Min Goo Lee, Kyung-Sang Yu, In-Jin Jang, Jaeseong Oh

A pilot study to investigate the utility of NAT2 genotype-guided isoniazid monotherapy regimens in NAT2 slow acetylators

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Yonjung Kim, Ikhyun Jun, Dong Hoon Shin

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, Jihoon G. Yoon

ORCID

, He Piao, Jinsei Jung

ORCID

, Hyun Woo Park, Mary Hongying Cheng, Ivet Bahar, David C. Whitcomb, Min Goo Lee

ORCID

Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related Disorders

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2019 Jihoon G. Yoon

ORCID

, Hyung Min Hahn, Sungkyoung Choi

ORCID

, Soo Jung Kim, Sowon Aum, Jung Woo Yu, Eun Kyung Park, Kyu Won Shim, Min Goo Lee

ORCID

, Yong Oock Kim

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing

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Myung-A. Cho, Jihoon G. Yoon

ORCID

, Vitchan Kim, Harim Kim, Rowoon Lee, Min Goo Lee, Donghak Kim

Functional Characterization of Pharmcogenetic Variants of Human Cytochrome P450 2C9 in Korean Populations

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