Publications

📚 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 entire list of publications, please see our Google Scholar profile.

2026

A predictive framework for stop-loss variants with C-terminal extensions

Jihoon G Yoon, Sojin Lee, Yoonjung Kim, Heon Yung Gee, Min Goo Lee, Kyung-A Lee

Nucleic Acids Research  ·  14 Jan 2026  ·  doi:10.1093/nar/gkag031

한빛사 논문

Link

2025

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders

Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, …, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae

Genome Medicine  ·  06 Aug 2025  ·  doi:10.1186/s13073-025-01513-w

한빛사 논문

Link

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  ·  03 Mar 2025  ·  doi:10.1186/s12920-024-02058-4

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  ·  24 Feb 2025  ·  doi:10.1172/jci.insight.176985

2024

Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases

Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, …, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho

npj Genomic Medicine  ·  28 Nov 2024  ·  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

Jihoon G. Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, …, Martijn J. de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee

The American Journal of Human Genetics  ·  01 Aug 2024  ·  doi:10.1016/j.ajhg.2024.06.015

Link

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans

Seungbok Lee, Jihoon G. Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, …, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae

Neurology Genetics  ·  01 Jun 2024  ·  doi:10.1212/NXG.0000000000200147

Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor

Bora Jin, Jihoon G. Yoon, Aryun Kim, Jangsup Moon, Han-Joon Kim

Neurology Genetics  ·  01 Apr 2024  ·  doi:10.1212/NXG.0000000000200141

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, Chul Hoon Kim, Jae Myun Lee, Sang-Heon Kim, Min Goo Lee

Experimental & Molecular Medicine  ·  01 Mar 2024  ·  doi:10.1038/s12276-024-01172-8

한빛사 논문

Link

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  ·  02 Feb 2024  ·  doi:10.1038/s41431-024-01542-w

2022

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

Movement Disorders  ·  21 Nov 2022  ·  doi:10.1002/mds.29275

2021

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, …, Hye Eun Yoon, Jaeseok Yang, Min Goo Lee, Jae Berm Park, Myoung Soo Kim

Transplantation  ·  01 Oct 2021  ·  doi:10.1097/TP.0000000000003660

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

Jihoon G. Yoon, Min Hwan Kim, Mi Jang, Hoguen Kim, Ho Kyoung Hwang, …, Choong‐kun Lee, Min Goo Lee, Hyun Cheol Chung, Hye Jin Choi, Young Nyun Park

Hepatology  ·  29 Jul 2021  ·  doi:10.1002/hep.31862

한빛사 논문

Link

2019

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  ·  22 Nov 2019  ·  doi:10.1093/neuros/nyz470

Machine Learning–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  ·  01 May 2019  ·  doi:10.1161/STROKEAHA.118.024293