Author

Alicia Pham

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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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 2 shared Anne O’Donnell‐LuriaiD· 2 shared Ben WeisburdiD· 2 shared Benjamin Blankenmeister· 2 shared Brian E. Mangilog· 2 shared Christina Anne Austin-TseiD· 2 shared Emily O’HeiriD· 2 shared Gabrielle LemireiD· 2 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

Mutual co-authors in cluster

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2 papers

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

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

Alba Sanchis‐Juan, Yulia Mostovoy, Sarah L. Stenton, Vijay S Ganesh, Ben Weisburd, Alex Yenkin, Nehir Edibe Kurtas, Xuefang Zhao, Eren Shin, Philip M. Boone, Hang Su, Arthur S. Lee, Rachita Yadav, Kirsten Allan, Emanuela Argilli, , Michael E. Talkowski

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

medRxiv · Jun 24, 2026 · PreprintGenetic & Genomic Medicine