Author

Matthew R. Herzog

University of California, Los AngelesORCID 0000-0002-9590-1682Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Camille L. Birch· 2 shared Donna M. BrowniD· 2 shared Joy D. CoganiD· 2 shared Julián A. Martínez-AgostoiD· 2 shared Katrina M. DippleiD· 2 shared Naghmeh DorraniiD· 2 shared Agnes H. CheniD· 1 shared Alan H. BeggsiD· 1 shared

Activity by Year

2018-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Camille L. Birch

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2 papers

Recent·Most cited

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill Anne Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, Matthew R. Herzog, Agnes H. Chen, Patricia Dickson, Henry J. Lin, Moin U. Vera, Noriko Salamon, John M. Graham, Damara N. Ortiz, , Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

The American Journal of Human Genetics · Jul 26, 2018Peer-reviewedGenetics

Programmatic Detection of Diploid-Triploid Mixoploidy via Whole Genome Sequencing

James Holt, Camille L. Birch, Donna M. Brown, Joy D. Cogan, Rizwan Hamid, Naghmeh Dorrani, Matthew R. Herzog, Hane Lee, Julián A. Martínez-Agosto, Undiagnosed Diseases Network, Katrina M. Dipple, Eric J. N. Vilain, John A. Phillips, Elizabeth A. Worthey

The paper develops a method to detect diploid-triploid mixoploidy using whole genome sequencing data and validates it with clinical cytogenetic testing.

bioRxiv · Jul 18, 2018 · PreprintGenomics