Author

Eva Martinez

Broad Institute

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Anne O’Donnell‐LuriaiD· 2 shared Heidi L. RehmiD· 2 shared Melanie O’LearyiD· 2 shared Monica Hsiung WojcikiD· 2 shared Siwaar AbouhalaiD· 2 shared A. D. Neale· 1 shared Alba Sanchis‐JuaniD· 1 shared Alicia Pham· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne O’Donnell‐LuriaORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease

Ashana Neale, Jacklyn O. Durigan, Hadley Stevens Smith, Yarden S. Fraiman, Siwaar Abouhala, Eva Martinez, Heidi L. Rehm, Anne O’Donnell‐Luria, Melanie O’Leary, Monica Hsiung Wojcik

This study explores equitable strategies for participant engagement in rare disease genomic research through interviews with underrepresented individuals and clinicians.

medRxiv · Oct 28, 2026 · PreprintGenetic & Genomic Medicine

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

Anne O’Donnell‐Luria, Stephanie P. DiTroia, Melanie O’Leary, Lynn S. Pais, Vijay S Ganesh, Gabrielle Lemire, Emily O’Heir, A. D. Neale, Alicia Pham, Grace E. VanNoy, Brian E. Mangilog, Moriel Singer‐Berk, Alba Sanchis‐Juan, Hana Snow, Siwaar Abouhala, , Heidi L. Rehm

The Rare Genomes Project provides remote genomic sequencing to rare disease families, achieving a 23.3% diagnostic solve rate and highlighting the role of research in overcoming clinical diagnostic barriers.

medRxiv · Sep 20, 2026 · PreprintGenetic & Genomic Medicine