Author

Dean R. Campagna

Boston Children's HospitalORCID 0000-0003-3893-0257Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:cell signaling & trafficking· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Mark D. FlemingiD· 3 shared Adam DeCostaiD· 1 shared Akiko ShimamuraiD· 1 shared Alison G. ComptoniD· 1 shared Anastasia NikiforoviD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Carsten G. BönnemanniD· 1 shared Chelsea BarrowsiD· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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3 shared papersBiochemistry

Mark D. FlemingORCID

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3 papers

Recent·Most cited

BiochemistrySciencePeer-reviewedJul 30, 2026

An adaptor for feedback regulation of heme biosynthesis by the mitochondrial protease CLPXP

Thomas Cottle, Lydia Joh, Cori Posner…·Julia R. Kardon

The paper identifies POLDIP2 as a heme-sensing adaptor that facilitates CLPXP-mediated degradation of ALAS, elucidating the mechanism of heme-induced feedback regulation in heme biosynthesis.

10 citationstop 1%

humanexperimental assay

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Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedApr 15, 2025

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake…·Anne O’Donnell‐Luria

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

3 citations

humanwhole-exome sequencing

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GenomicsbioRxivPreprintNov 19, 2017

Chasing a moving target: Detection of mitochondrial heteroplasmy for clinical diagnostics

Eric J. White, Tristen Ross, Edgardo Lopez…·John F. Thompson

The paper develops a method to detect mitochondrial heteroplasmy using NGS data and evaluates sources of mtDNA for clinical diagnostics.

5 citations

humanwhole-genome sequencing

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