Laboratory for Precision Genome Medicine (PGM)

Publications

๐Ÿ“ Preprints

Early access to our most recent research, shared prior to peer-reviewed publication.

๐Ÿ“š Selected Publications

Here we highlight a selection of representative publications from the PGM Lab, showcasing our contributions as main authors in genetics, genomics, and bioinformatics research.

For the complete list of publications, please see our Google Scholar profile.

2025

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders
Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, โ€ฆ, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae
Genome Medicine ย ยทย  06 Aug 2025 ย ยทย  doi:10.1186/s13073-025-01513-w
ํ•œ๋น›์‚ฌ ๋…ผ๋ฌธ
Source
Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
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, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Jin Sook Lee, Jong-Hee Chae
BMC Medical Genomics ย ยทย  03 Mar 2025 ย ยทย  doi:10.1186/s12920-024-02058-4
Digenic impairments of haploinsufficient genes in patients with craniosynostosis
Digenic impairments of haploinsufficient genes in patients with craniosynostosis
Jung Woo Yu, Jihoon G. Yoon, Chaerim Han, Shin Hye Noh, Dong Min Shin, Yu-Mi Yang, Yong Oock Kim, Kyu-Won Shim, Min Goo Lee
JCI Insight ย ยทย  24 Feb 2025 ย ยทย  doi:10.1172/jci.insight.176985

2024

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, โ€ฆ, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
npj Genomic Medicine ย ยทย  28 Nov 2024 ย ยทย  doi:10.1038/s41525-024-00449-1
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
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, โ€ฆ, Martijn J. de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
The American Journal of Human Genetics ย ยทย  01 Aug 2024 ย ยทย  doi:10.1016/j.ajhg.2024.06.015
Source
Prevalence and Characterization of i NOTCH2NLC i GGC Repeat Expansions in Koreans
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans
Seungbok Lee, Jihoon G. Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, โ€ฆ, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Neurology Genetics ย ยทย  01 Jun 2024 ย ยทย  doi:10.1212/NXG.0000000000200147
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor
Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor
Bora Jin, Jihoon G. Yoon, Aryun Kim, Jangsup Moon, Han-Joon Kim
Neurology Genetics ย ยทย  01 Apr 2024 ย ยทย  doi:10.1212/NXG.0000000000200141
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity
Jihoon G. Yoon, Dong Geon Jang, Sung-Gyu Cho, Chaeyoung Lee, Shin Hye Noh, โ€ฆ, Ho Joo Yoon, Chul Hoon Kim, Jae Myun Lee, Sang-Heon Kim, Min Goo Lee
Experimental & Molecular Medicine ย ยทย  01 Mar 2024 ย ยทย  doi:10.1038/s12276-024-01172-8
ํ•œ๋น›์‚ฌ ๋…ผ๋ฌธ
Source
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
Jihoon G. Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
European Journal of Human Genetics ย ยทย  02 Feb 2024 ย ยทย  doi:10.1038/s41431-024-01542-w

2022

De Novo scp i SPTAN1 i scp Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
Jae Young Joo, Jihoon G. Yoon, Seoungbok Lee, Jangsup Moon, Hanโ€Joon Kim
Movement Disorders ย ยทย  21 Nov 2022 ย ยทย  doi:10.1002/mds.29275

2021

Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing
Unraveling the Genomic Architecture of the CYP3A Locus and ADME Genes for Personalized Tacrolimus Dosing
Jihoon G. Yoon, Seung Hwan Song, Sungkyoung Choi, Jaeseong Oh, In-Jin Jang, โ€ฆ, Hye Eun Yoon, Jaeseok Yang, Min Goo Lee, Jae Berm Park, Myoung Soo Kim
Transplantation ย ยทย  01 Oct 2021 ย ยทย  doi:10.1097/TP.0000000000003660
Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1 Programmed Death Ligand 1 Blockade Responses
Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Deathโ€Ligand 1 Blockade Responses
Jihoon G. Yoon, Min Hwan Kim, Mi Jang, Hoguen Kim, Ho Kyoung Hwang, โ€ฆ, Choongโ€kun Lee, Min Goo Lee, Hyun Cheol Chung, Hye Jin Choi, Young Nyun Park
Hepatology ย ยทย  29 Jul 2021 ย ยทย  doi:10.1002/hep.31862
ํ•œ๋น›์‚ฌ ๋…ผ๋ฌธ
Source

2019

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing
Jihoon G Yoon, Hyung Min Hahn, Sungkyoung Choi, Soo Jung Kim, Sowon Aum, Jung Woo Yu, Eun Kyung Park, Kyu Won Shim, Min Goo Lee, Yong Oock Kim
Neurosurgery ย ยทย  22 Nov 2019 ย ยทย  doi:10.1093/neuros/nyz470
Machine Learning Based Model for Prediction of Outcomes in Acute Stroke
Machine Learningโ€“Based Model for Prediction of Outcomes in Acute Stroke
JoonNyung Heo, Jihoon G. Yoon, Hyungjong Park, Young Dae Kim, Hyo Suk Nam, Ji Hoe Heo
Stroke ย ยทย  01 May 2019 ย ยทย  doi:10.1161/STROKEAHA.118.024293