Author

Junne Kamihara

Boston Children's HospitalORCID 0000-0002-2852-7387Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:polygenic risk· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Eliezer M. Van AlleniD· 2 shared Riaz GillaniiD· 2 shared Saud H. AlDubayaniD· 2 shared Seunghun HaniD· 2 shared Alexander GuseviD· 1 shared Brian D. CromptoniD· 1 shared Deborah Wood NeklasoniD· 1 shared Erica Maria PimentaiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Eliezer M. Van AllenORCID

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2 papers

Recent·Most cited

Diverse mediators of cancer predisposition uncovered by germline whole genome sequencing of unexplained familial cancers

Noah Fields, Seunghun Han, Wenbin Mei, Erin Shannon, Ryan M. Buehler, Deborah Wood Neklason, Erica Maria Pimenta, Junne Kamihara, Judy Ellen Garber, Riaz Gillani, Saud H. AlDubayan, J Park, Ryan L. Collins, Eliezer M. Van Allen

The paper identifies polygenic risk factors and rare variants in unexplained familial cancers using whole genome sequencing and family history data.

medRxiv · May 13, 2026 · PreprintGenetic & Genomic Medicine

Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genes

Riaz Gillani, Sabrina Yvonne Camp, Seunghun Han, Jill K. Jones, Hoyin Chu, Schuyler O’Brien, Erin L. Young, Lucy Hayes, Gareth Mitchell, Trent Fowler, Alexander Gusev, Junne Kamihara, Katherine A. Janeway, Joshua David Schiffman, Brian D. Crompton, , Eliezer M. Van Allen

This study identifies inherited pathogenic variants in DNA damage repair genes as a distinct germline risk factor for Ewing sarcoma, with FANCC showing significant enrichment.

The American Journal of Human Genetics · May 4, 2022Peer-reviewedGenetic & Genomic Medicine