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.

Same name, identified by ORCID

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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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJun 4, 2025

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

Su-Yeon Kim, Nahyun Kim, Uijin 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.

DOI 10.1101/2025.06.04.657815

mousestatistical model

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Genetic & Genomic MedicineDiscovery Research Portal (University of Dundee)Peer-reviewedJan 1, 2022

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…·Mary Cushman

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

20 citations

humanGWAS summary statistics

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedJun 9, 2021

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

Julia K. Goodrich, Moriel Singer‐Berk, Rachel Son…·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.

4 citations

humanwhole-exome sequencing

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