Author

Alan Mejia Maza

Broad InstituteORCID 0000-0002-3154-7338Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Kevin CorreiaiD· 3 shared Tammy GillisiD· 3 shared Vanessa Chantal WheeleriD· 3 shared Cara Fernandez‐Cerado· 2 shared Cid Czarina E. DiestaiD· 2 shared Criscely L. Go· 2 shared D. Cristopher BraggiD· 2 shared Edwin L. Muñoz· 2 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Kevin CorreiaORCID

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4 papers

Recent·Most cited

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

Andrew Jiang, Kevin Correia, Tammy Gillis, Esaria Oliver, Ben P Jones, Branduff McAllister, Alan Mejia Maza, Marcy E. MacDonald, Ricardo Mouro Pinto, Vanessa Chantal Wheeler, James F. Gusella, Zachariah L. McLean

TRACE is an open-source software that quantifies somatic instability of tandem repeats using capillary electrophoresis data, providing accessible tools for analyzing repeat expansion.

Journal of Huntington s Disease · May 8, 2026Peer-reviewedGenetics

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Ellen B. Penney, Aloysius Domingo, Rachita Yadav, Micaela G. Murcar, Patrick D. Villafria Mercado, Justin S. Han, Ean P. Norenberg, Cara Fernandez‐Cerado, G. Paul Legarda, Michelle Ann C. Sy, , Vanessa Chantal Wheeler

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

bioRxiv · May 14, 2025 · PreprintGenetics

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez‐Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, John Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt‐Buell, Gabrielle Aldykiewicz, , Vanessa Chantal Wheeler

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

Acta Neuropathologica Communications · Apr 8, 2022Peer-reviewedGenetics

NMJ-Analyser: high-throughput morphological screening of neuromuscular junctions identifies subtle changes in mouse neuromuscular disease models

Alan Mejia Maza, Seth Jarvis, Weaverly Colleen Lee, Thomas J. Cunningham, Giampietro Schiavo, Maria Secrier, Pietro Fratta, James N. Sleigh, Elizabeth Fisher, Carole H. Sudre

NMJ-Analyser quantifies neuromuscular junction morphology and innervation status in mouse models, identifying structural changes in ALS and peripheral neuropathy with high accuracy.

Scientific Reports · Jun 10, 2021Peer-reviewedNeuroscience