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Frontiers in Genetics|October 10, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseasesSoojin Park, Se Song Jang, Seungbok Lee, et al.Experimental & Molecular Medicine|February 29, 2024
Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicityJihoon G Yoon, Dong Geon Jang, Sung-Gyu Cho, et al.Genome Medicine|August 7, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disordersJihoon G Yoon, Hyunsoo Jang, Seungbok Lee, et al.Physical Review Letters|November 20, 2020
Search for Sub-eV Sterile Neutrinos at RENOJ H Choi, H I Jang, J S Jang, et al.Clinical Genetics|October 27, 2015
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and managementM Avila, D A Dyment, J V Sagen, et al.Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.Clinical Genetics|August 19, 2015
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in careS L Sawyer, T Hartley, D A Dyment, et al.Pageof 18