Author

Bong-Jo Kim

Istituto Superiore di Sanità

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Young Jin KimiD· 3 shared Carlos A Aguilar-Salinas· 2 shared Christian GiegeriD· 2 shared Maggie C.Y. NgiD· 2 shared Michael H PreussiD· 2 shared Niels GrarupiD· 2 shared Soo‐Heon KwakiD· 2 shared Abigail SvedeniD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Young Jin KimORCID

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Author profile →

3 papers

Recent·Most cited

The SAMM50 rs3761472 causes mitochondrial dysfunction and metabolic dysfunction-associated steatotic liver disease

Su-Yeon Kim, Nahyun Kim, Uijin Kim, Young Jin Kim, Jun Ho Yun, Jiwon Heo, Hyunwoo Lee, Jiwon Choi, Inhae Jeong, Bong-Jo Kim, Ha Youn Shin

This study identifies SAMM50 rs3761472 as a risk factor for MASLD by showing it causes mitochondrial dysfunction and metabolic impairments in mice.

bioRxiv · Jun 4, 2025 · PreprintGenetics

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

Anubha Mahajan, Cassandra Nichole Spracklen, Weihua Zhang, Maggie C.Y. Ng, Lauren E. Petty, Hidetoshi Kitajima, Grace Z. Yu, Sina Rüeger, Leo Speidel, Young Jin Kim, Momoko Horikoshi, Josep Maria Mercader, Daniel Taliun, Sanghoon Moon, Soo‐Heon Kwak, , Mary Cushman

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

Discovery Research Portal (University of Dundee) · Jan 1, 2022Peer-reviewedGenetic & Genomic Medicine

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich, Moriel Singer‐Berk, Rachel Son, Abigail Sveden, Jordan C. Wood, Eleina M. England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, , Kerrin S. Small

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

Nature Communications · Jun 9, 2021Peer-reviewedGenetic & Genomic Medicine