Jihoon Yoon

Clinical Professor

Gangnam Severance Hospital

South Korea

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About

Jihoon Yoon is a Clinical Professor at Gangnam Severance Hospital in South Korea. His research encompasses quality management in blood culture testing, the application of large language models in rare disease phenotyping, and genomic medicine for undiagnosed rare diseases. He has contributed to the understanding of genetic factors in conditions such as craniosynostosis, microcephaly, and epilepsy through his recent publications.

Articles (17)

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2025

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2024

Collaborators (6)

Min Hyuk Choi

Yonsei University Health System

SOUTH KOREA

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Kon Chu

Professor

Seoul National University Hospital

SOUTH KOREA

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Han-Joon Kim

Seoul National University Hospital

SOUTH KOREA

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Sheehyun Kim

Clinical Assistant Professor

Seoul National University Hospital

SOUTH KOREA

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WooJoong Kim

SOUTH KOREA

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Jaeso Cho

Professor

Seoul National University Hospital

SOUTH KOREA

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Jihoon Yoon

Research Interests

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About

Articles (17)

Quality Management of Blood Culture Testing: Reducing Contamination and Improving Outcomes

Investigating the utility of large language models for image-based rare disease phenotyping

Digenic impairments of haploinsufficient genes in patients with craniosynostosis

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients

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

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor

Broadening the scope of multigene panel analysis for adult epilepsy patients

Broadening the scope of multigene panel analysis for adult epilepsy patients

Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea

De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder

De novo HDAC3 variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder

Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans

Expanding association between BICD2 variants and brain malformations and associated lissencephaly

Expanding association between <i>BICD2</i> variants and brain malformations and associated lissencephaly

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Masquerading as Charcot-Marie-Tooth (CMT) Disease: A Case Study and Literature Review of Korean Patients

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

Collaborators (6)

Min Hyuk Choi

Kon Chu

Han-Joon Kim

Sheehyun Kim

WooJoong Kim

Jaeso Cho

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