Author

Ben Afzali

National Institutes of Health

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:Drosophila· 1 Approach:experimental assay· 1

Frequent Co-Authors

Alan H. BeggsiD· 3 shared Andrew B. CrouseiD· 3 shared Ashley AndrewsiD· 3 shared Ashok BalasubramanyamiD· 3 shared Beatriz AnguianoiD· 3 shared Carlos A. BacinoiD· 3 shared Chun‐Hung ChaniD· 3 shared David R. AdamsiD· 3 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alan H. BeggsORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling

Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese, Di Lu, Chih‐Wei Hsu, H Hashimoto, Matthew Gonzalez, Audrey E. Christiansen, Tara L. Rasmussen, Alex J. Ho, Angelina Gaspero, Cher Sha, Mary E. Dickinson, Bo Yuan, Brian J. Shayota, , Andrew B. Crouse

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

Genetics in Medicine · Jul 9, 2026Peer-reviewedGenetic & Genomic Medicine

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Isabelle B. Cooperstein, Shruti Marwaha, Alistair N. Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network, Aaron R. Quinlan, Abdul Aziz Elkadri, Adeline L. Vanderver, Adriana P. Rebelo, Alan H. Beggs, Albert R. La Spada, Alden Huang, Alex Paul, Alexander Miller, , Emily Glanton

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Genome Medicine · Oct 21, 2025Peer-reviewedGenetic & Genomic Medicine

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander D. Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julián A. Martínez-Agosto, Richard I. Sherwood, , Esteban C. Dell’Angelica

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

Nature Communications · Aug 6, 2025Peer-reviewedGenetics