Author

Matthew Bainbridge

Rady Children's Hospital-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· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1 Assay:ChIP-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Serge BataloviD· 2 shared Aaron D. BestermaniD· 1 shared Abraham A. PalmeriD· 1 shared Andrew A. HardiganiD· 1 shared Anju Shukla· 1 shared Ashwin Dalal· 1 shared Ayman W. El-Hattab· 1 shared Benjamin Cogné· 1 shared

Activity by Year

2016-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Serge BatalovORCID

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3 papers

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

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Yan Ding, Mallory J. Owen, Jennie M. Le, Serge Batalov, Kevin K. Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, , Stephen Francis Kingsmore

This study demonstrates that high-quality whole genome sequencing can be achieved from archived dried blood spots without PCR amplification, suitable for population genomic studies.

npj Genomic Medicine · Feb 14, 2023Peer-reviewedGenetic & Genomic Medicine

Mutations in EBF3 disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism

Frederike Leonie Harms, Katta Mohan Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, , Kerstin Kutsche

The paper identifies EBF3 mutations in individuals with intellectual disability, ataxia, and facial dysmorphism, showing they impair transcriptional regulation and neuronal development.

bioRxiv · Aug 3, 2016 · PreprintGenetics