Machine Learning–Based Model for Prediction of Outcomes in Acute Stroke von Heo, JoonNyung, Yoon, Jihoon G, Park, Hyungjong, Kim, Young Dae, Nam, Hyo Suk, Heo, Ji Hoe

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Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death‐Ligand 1 Blockade Responses von Yoon, Jihoon G., Kim, Min Hwan, Jang, Mi, Kim, Hoguen, Hwang, Ho Kyoung, Kang, Chang Moo, Lee, Woo Jung, Kang, Beodeul, Lee, Choong‐kun, Lee, Min Goo, Chung, Hyun Cheol, Choi, Hye Jin, Park, Young Nyun

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Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing von Yoon, Jihoon G, Lee, Seungbok, Cho, Jaeso, Kim, Narae, Kim, Sheehyun, Kim, Man Jin, Kim, Soo Yeon, Moon, Jangsup, Chae, Jong-Hee

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Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia von Kim, Man Jin, Kim, Sheehyun, Chae, Seung Won, Lee, Seungbok, Yoon, Jihoon G, Kim, Boram, Lee, Jee-Soo, Chae, Jong Hee, Seong, Moon-Woo, Moon, Jangsup

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Synergistic toxicity with copper contributes to NAT2-associated isoniazid toxicity von Yoon, Jihoon G., Jang, Dong Geon, Cho, Sung-Gyu, Lee, Chaeyoung, Noh, Shin Hye, Seo, Soo Kyung, Yu, Jung Woo, Chung, Hyeon Woo, Han, KyeoRe, Kwon, Soon Sung, Han, Dai Hoon, Oh, Jaeseong, Jang, In-Jin, Kim, Sang-Hoon, Jee, Young-Koo, Lee, Hyun, Park, Dong Won, Sohn, Jang Won, Yoon, Ho Joo, Kim, Chul Hoon, Lee, Jae Myun, Kim, Sang-Heon, Lee, Min Goo

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

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Machine learning-based diagnosis for disseminated intravascular coagulation (DIC): Development, external validation, and comparison to scoring systems von Yoon, Jihoon G, Heo, JoonNyung, Kim, Minkyu, Park, Yu Jin, Choi, Min Hyuk, Song, Jaewoo, Wyi, Kangsan, Kim, Hakbeen, Duchenne, Olivier, Eom, Soowon, Tsoy, Yury

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

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

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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder von Yoon, Jihoon G., Lim, Seong-Kyun, Seo, Hoseok, Lee, Seungbok, Cho, Jaeso, Kim, Soo Yeon, Koh, Hyun Yong, Poduri, Annapurna H., Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, de Groot, Martijn J., Ko, Jung Min, Han, Dohyun, Chae, Jong-Hee, Lee, Chul-Hwan

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

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Expanding association between BICD2 variants and brain malformations and associated lissencephaly von Cho, Jaeso, Kim, Haeryung, Lee, Seoungbok, Yoon, Jihoon G, Kim, HyeJin, Kim, Minhye, Jang, Seoyun, Kim, Woojoong, Kim, Soo Yeon, Chae, Jong Hee

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Epilepsy phenotype and gene ontology analysis of the 129 genes in a large neurodevelopmental disorders cohort von Ko, Young Jun, Kim, Soo Yeon, Lee, Seungbok, Yoon, Jihoon G., Kim, Man Jin, Jun, Hyeji, Kim, Hunmin, Chae, Jong-Hee, Kim, Ki Joong, Kim, Kwangsoo, Lim, Byung Chan

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

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The First Korean Case of VEXAS Syndrome Caused by a UBA1 Somatic Variant von Yoon, Jihoon G, Lee, Seungbok, Kim, Sheehyun, Kim, Man Jin, Chang, Yoon Hwan, Park, Jin Kyun, Shin, Dong-Yeop, Moon, Jangsup

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The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder von Lee, Seungbok, Jang, Se Song, Park, Soojin, Yoon, Jihoon G., Kim, Soo Yeon, Lim, Byung Chan, Chae, Jong Hee

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Comparison of Six Automated Treponema-Specific Antibody Assays von Park, Borae G, Yoon, Jihoon G, Rim, John Hoon, Lee, Anna, Kim, Hyon-Suk

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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Masquerading as Charcot-Marie-Tooth (CMT) Disease: A Case Study and Literature Review of Korean Patients von Kim, Yongmoo, Lee, Seungbok, Cho, Jae So, Yoon, Jihoon G, Kim, Sheehyun, Kim, Man Jin, Chae, Jong Hee, Kim, Manho, Moon, Jangsup

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Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases von Park, Soojin, Jang, Se Song, Lee, Seungbok, Kim, Minsoo, Sim, Hyungtai, Jeon, Hyeongseok, Hong, Sung Eun, Lee, Jean, Lee, Jeongeun, Jeon, Eun Young, Lee, Jeongha, Lee, Cho-Rong, Kim, Soo Yeon, Kim, Man Jin, Yoon, Jihoon G, Lim, Byung Chan, Kim, Woo Joong, Kim, Ki Joong, Ko, Jung Min, Cho, Anna, Lee, Jin Sook, Choi, Murim, Chae, Jong-Hee

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Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases von Cho, Jaeso, Yoon, Jihoon G, Lee, Seungbok, Kim, Sheehyun, Kim, Soo Yeon, Kim, Man Jin, Moon, Jangsup, Chae, Jong-Hee

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