Author

A. D. Neale

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· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Alicia Pham· 1 shared Alysia Kern LovgreniD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben WeisburdiD· 1 shared Benjamin Blankenmeister· 1 shared Brian E. Mangilog· 1 shared Briana O'LearyiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

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