Young Seok Ju

Associate Professor

Korea Advanced Institute of Science and Technology

South Korea

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About

Young Seok Ju is an Associate Professor at the Korea Advanced Institute of Science and Technology in South Korea. His research areas include genetic disorders, cancer genomics, and metabolic diseases, as reflected in his recent publications on topics such as pathogenic variants in familial Mediterranean fever and the genetic diversity in CHARGE syndrome. Additionally, he contributes to understanding the implications of somatic mutations in autism and the role of BRCA1/2 mutations in retinoblastoma.

Articles (20)

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2025

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2022

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2022

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2021

Collaborators (16)

Rebecca Dagg

University of Oxford

UNITED KINGDOM

Young Seok Ju

Research Interests

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Articles (20)

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report

Leveraging Whole-Exome Sequencing and Mutational Signatures to Detect Homologous Recombination Deficiency in Cancer

Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome

A more elaborate genetic clock for clonal species

A male mouse model for metabolic dysfunction-associated steatotic liver disease and hepatocellular carcinoma

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations

Salih myopathy and Feingold syndrome type 1 caused by the TTN and MYCN mutation in an infant with congenital hypotonia

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers

Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Author Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers

Publisher Correction: Comprehensive molecular characterization of mitochondrial genomes in human cancers

Widespread somatic L1 retrotransposition in normal colorectal epithelium

Asymmetric Contribution of Blastomere Lineages of First Division of the Zygote to Entire Human Body Using Post-Zygotic Variants.

Spatial genomics maps the structure, nature and evolution of cancer clones

Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea

Publisher Correction: Weight-bearing activity impairs nuclear membrane and genome integrity via YAP activation in plantar melanoma

Weight-bearing activity impairs nuclear membrane and genome integrity via YAP activation in plantar melanoma

Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance

Dissecting single-cell genomes through the clonal organoid technique

Collaborators (16)

Rebecca Dagg

John Weinstein

Eun Young Lee

Soyoung Lee

Dong Sun Kim

Seong Gu Heo

June Hyug Choi

Man-Hoon Han

Maxime Tarabichi

Yong Joon Kim

qiang pan-hammarstrom

WONIL CHOI

In Hee Choi

Ken Chen

Samantha Bersani

Mee Sook Jun

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