Author

Jaime M. Guidry Auvil

National Cancer InstituteORCID 0000-0002-5468-6592Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Daniela Se Gerhard· 2 shared Gonzalo LópeziD· 2 shared Javed Iqbal KhaniD· 2 shared John M. MarisiD· 2 shared Jun Stephen WeiiD· 2 shared Karina L. ConkriteiD· 2 shared Lance M. Farra· 2 shared Sharon J. DiskiniD· 2 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Daniela Se Gerhard

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2 papers

Recent·Most cited

Germline pathogenic variants in 786 neuroblastoma patients

Jung Kim, Zalman Vaksman, Laura E. Egolf, Rebecca Kaufman, Perry Evans, Karina L. Conkrite, Arnavaz Danesh, Gonzalo López, Michael P. Randall, Maiah H. Dent, Lance M. Farra, Neil Menghani, Malwina Dymek, Heena Desai, Ryan M. Hausler, , Sharon J. Diskin

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

medRxiv · Jan 23, 2023 · PreprintGenetic & Genomic Medicine

Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma

Gonzalo López, Karina L. Conkrite, Miriam Doepner, Komal S. Rathi, Apexa Modi, Zalman Vaksman, Lance M. Farra, Eric Hyson, Moataz Noureddine, Jun Stephen Wei, Malcolm Anders Smith, Shahab Asgharzadeh, Robert C. Seeger, Javed Iqbal Khan, Jaime M. Guidry Auvil, , Sharon J. Diskin

This study identifies somatic structural variations in neuroblastoma, showing their enrichment in neurodevelopmental genes and the tumor suppressor role of SHANK2.

Genome Research · Sep 1, 2020Peer-reviewedGenomics