Author

Joshua Diaz

University of California San Diego

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

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron D. BestermaniD· 1 shared Abraham A. PalmeriD· 1 shared Chloe ReevesiD· 1 shared Helyaneh Ziaei JamiD· 1 shared James GuevaraiD· 1 shared Jonathan L. SebatiD· 1 shared Kristen JepseniD· 1 shared Matthew Bainbridge· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron D. BestermanORCID

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1 paper

Recent·Most cited

Long-Read Genome Sequencing Improves Detection and Functional Interpretation of Structural and Repeat Variants in Autism

Milad Mortazavi, James Guevara, Joshua Diaz, Stephen S. Tran, Helyaneh Ziaei Jam, Chloe Reeves, Serge Batalov, Kristen Jepsen, Matthew Bainbridge, Aaron D. Besterman, Melissa Gymrek, Abraham A. Palmer, Jonathan L. Sebat

This study shows that long-read genome sequencing improves detection of structural and repeat variants in autism and links them to functional consequences.

Cell Genomics · Mar 9, 2026Peer-reviewedGenetic & Genomic Medicine