Author

Bria L Macklin

Gladstone InstitutesORCID 0000-0002-3744-6431Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Cell Biology· 1 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:drug response / drug discovery· 2 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Assay:CRISPR screen· 1 Approach:deep learning· 1

Frequent Co-Authors

Bruce R. ConkliniD· 4 shared Akshita Saxena· 2 shared Grace D. RameyiD· 2 shared Hannah L. Watry· 2 shared John A. CapraiD· 2 shared Luke M. JudgeiD· 2 shared Philip H. DierksiD· 2 shared Adam C. WeineriD· 1 shared

Activity by Year

2025-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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4 shared papersBioinformatics

Bruce R. ConklinORCID

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Author profile →

4 papers

Recent·Most cited

EXCAVATE-HT: A Bioinformatic Pipeline to Identify Targetable Genomic Variants for Allele-Specific Editing

Akshita Saxena, Grace D. Ramey, John A. Capra, Bruce R. Conklin, Bria L Macklin

EXCAVATE-HT identifies targetable genomic variants for allele-specific CRISPR editing by analyzing population data and generating gRNA libraries.

bioRxiv · Jul 24, 2026 · PreprintBioinformatics

Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles

Grace D. Ramey, Quinn T. Cowan, Akshita Saxena, Bria L Macklin, Hannah L. Watry, Xiaoyue Mei, Philip H. Dierks, Luke M. Judge, Bruce R. Conklin, John A. Capra

This paper identifies therapeutic opportunities for over 500 genes with dominant and dispensable disease alleles by enabling mutation-agnostic gene therapy through allele-specific targeting.

medRxiv · Mar 27, 2026 · PreprintGenetic & Genomic Medicine

Using image classifiers to predict CMT2A disease-relevant mitochondrial motility phenotypes in iPSC motor neurons

Leo F. Epstein, Adam C. Weiner, Bria L Macklin, Kaitlin R Kelly, Bruce R. Conklin, Barbara Elizabeth Engelhardt

This paper develops a vision transformer framework to classify CMT2A disease phenotypes in iPSC motor neurons using kymographs, showing improved accuracy over traditional metrics.

bioRxiv · Mar 17, 2026 · PreprintCell Biology

Neuronal DNA repair reveals strategies to influence CRISPR editing outcomes

Gokul N. Ramadoss, Samali J. Namaganda, Manasi M. Kumar, Jennifer R. Hamilton, Rohit Kumar Sharma, Karena G. Chow, Luke A. Workley, Bria L Macklin, Mengyuan Sun, Alvin S. Ha, Jiacheng Liu, Christof Fellmann, Hannah L. Watry, Philip H. Dierks, Rudra S. Bose, , Bruce R. Conklin

The paper investigates DNA repair in postmitotic neurons and shows that manipulating repair pathways can influence CRISPR editing outcomes.

Nature Communications · Nov 17, 2025Peer-reviewedMolecular Biology