Author

Diane Becker

Johns Hopkins University

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· 3 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Assay:whole-genome sequencing· 3 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

François AguetiD· 4 shared Kristin ArdlieiD· 4 shared Marcos BezerraiD· 4 shared Pramod AnuguiD· 4 shared R. Graham BarriD· 4 shared Alex P. ReineriD· 3 shared Allison E. Ashley‐KochiD· 3 shared Álvaro AlonsoiD· 3 shared

Activity by Year

2025-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

François AguetORCID

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4 papers

Recent·Most cited

Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy

Melanie E. Garrett, Seyed Mehdi Nouraie, Roberto F. Machado, Victor R. Gordeuk, Mark T. Gladwin, Marilyn J. Telen, Allison E. Ashley‐Koch, Gonçalo Abecasis, François Aguet, Christine Albert, Laura Almasy, Álvaro Alonso, Seth Ament, Peter Anderson, Pramod Anugu, , Mao Fu

This paper performs a local ancestry-aware GWAS on SCD cohorts to identify novel genetic loci associated with eGFR, uncovering regions linked to inflammation, ECM integrity, and other pathways relevant to SCD nephropathy.

Blood Advances · Aug 19, 2026Peer-reviewedGenetic & Genomic Medicine

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed

Peter Orchard, Thomas W. Blackwell, Linda Kachuri, Peter J. Castaldi, Michael H. Cho, Stephanie A. Christenson, Peter Durda, Stacey Gabriel, Craig P. Hersh, Scott Huntsman, S.-J. Hwang, Roby Joehanes, Mari Johnson, Xingnan Li, Honghuang Lin, , Jeffrey L. Curtis

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

Science · Jul 16, 2026Peer-reviewedGenetic & Genomic Medicine

Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging

Woei‐Yuh Saw, Kangjin Kim, Yichen Huang, Jeong Hyun Yun, Xiaolong Ma, Jason Bacon, Yash Pershad, Daniel A Levy, George T. O’Connor, Eric Boerwinkle, R. Graham Barr, Stephen S. Rich, Jerome I. Rotter, April P. Carson, Laura M. Raffield, , Michael Rutledge DeBaun

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

American Journal of Respiratory and Critical Care Medicine · Mar 19, 2026Peer-reviewedGenetic & Genomic Medicine

cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions

Eric Van Buren, Yi Zhang, Xihao Li, Margaret Sunitha Selvaraj, Zilin Li, Hufeng Zhou, Nicholette D. Palmer, Donna K. Arnett, John Blangero, Eric Boerwinkle, Brian E. Cade, Jenna C. Carlson, April P. Carson, Yii-Der Ida Chen, Joanne E. Curran, , Russell Bowler

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

Nature Methods · Dec 31, 2025Peer-reviewedGenetics