Author

Daniel Navarro-Gomez

Massachusetts Eye and Ear Infirmary

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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Genetics· 2 Genomics· 2 Bioinformatics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Assay:bulk RNA-seq· 1

Frequent Co-Authors

Eric A. PierceiD· 5 shared Emily PlaceiD· 3 shared Kinga M. BujakowskaiD· 3 shared Sudeep MehrotraiD· 3 shared Farzad JamshidiiD· 2 shared Mathew Maher· 2 shared Revital BronsteiniD· 2 shared Alex D. Jansen· 1 shared

Activity by Year

2018-2020 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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5 shared papersGenomics

Eric A. PierceORCID

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Author profile →

5 papers

Recent·Most cited

Evaluating Methods for Differential Gene Expression And Alternative Splicing Using Internal Synthetic Controls.

Sudeep Mehrotra, Revital Bronstein, Daniel Navarro-Gomez, Ayellet V. Segrè, Eric A. Pierce

The paper evaluates methods for detecting differential gene expression, differential transcript expression, and alternative splicing using internal synthetic controls in RNA-seq data.

bioRxiv · Aug 5, 2020 · PreprintBioinformatics

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Erin Zampaglione, Benyam Kinde, Emily Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. Alex Mazzone, Caitlin Finn, Dana Schlegel, Jason Comander, Eric A. Pierce, Kinga M. Bujakowska

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.

Genetics in Medicine · Feb 9, 2020Peer-reviewedGenomics

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

Revital Bronstein, Elizabeth E. Capowski, Sudeep Mehrotra, Alex D. Jansen, Daniel Navarro-Gomez, Mathew Maher, Emily Place, Riccardo Sangermano, Kinga M. Bujakowska, David M. Gamm, Eric A. Pierce

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.

Human Molecular Genetics · Jan 21, 2020Peer-reviewedGenetics

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

Farzad Jamshidi, Emily Place, Sudeep Mehrotra, Daniel Navarro-Gomez, Mathew Maher, Kari E. H. Branham, Elise Valkanas, Timothy J. Cherry, Monkol Lek, Daniel G. MacArthur, Eric A. Pierce, Kinga M. Bujakowska

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.

Genetics in Medicine · Aug 1, 2018Peer-reviewedGenomics

Allele-specific CRISPR/Cas9 genome editing of the single-base P23H mutation for rhodopsin associated dominant retinitis pigmentosa

Pingjuan Li, Benjamin P. Kleinstiver, Mihoko Leon, Michelle S. Prew, Daniel Navarro-Gomez, Scott H. Greenwald, Eric A. Pierce, J. Keith Joung, Qin Liu

This study demonstrates allele-specific CRISPR/Cas9 editing of the P23H mutation in Rho-P23H mice, reducing mutant allele expression and delaying photoreceptor degeneration.

The CRISPR Journal · Feb 1, 2018Peer-reviewedGenetics