Author

Sahar Esmaeeli

AbbVie (United States)

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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Genetics· 2 Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Assay:bulk RNA-seq· 2 Research Focus:GWAS / association mapping· 2 Research Focus:differential expression· 1 Research Focus:eQTL / molecular QTL mapping· 1 Research Focus:fine-mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Bridget M. Riley-GillisiD· 2 shared Heiko RunziD· 2 shared Howard J. JacobiD· 2 shared J. Wade DavisiD· 2 shared Jeff Waring· 2 shared Jeffrey F. WaringiD· 2 shared Mark J. DalyiD· 2 shared Xinli HuiD· 2 shared

Activity by Year

2020-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bridget M. Riley-GillisORCID

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Author profile →

4 papers

Recent·Most cited

New Insights on Bridging Integrator 1 Protein Isoforms as a Risk Increasing Gene in Alzheimer's Disease

Min Hu, Sahar Esmaeeli, Lindsay R. Stolzenburg, Britney Milkovich, Mariam Jouni, Eugene Nyamugenda, Reza K. Hammond, Peter Reinhardt, Lamiaa Bahnassawy, Laura Gasparini, Jeffrey F. Waring, Aparna Vasanthakumar

The paper identifies BIN1 isoform expression patterns and genetic variants associated with Alzheimer's disease risk using GWAS and hiPSC differentiation data.

Frontiers in Aging Neuroscience · Oct 26, 2026Peer-reviewedNeuroscience

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao, Julia K. Goodrich, Grace Tiao, Wenhan Lu, Bridget M. Riley-Gillis, Ellen A. Tsai, Hye In Kim, Xiuwen Zheng, Fedik Rahimov, Sahar Esmaeeli, A. Jason Grundstad, Mark Reppell, Jeff Waring, , Benjamin M. Neale

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

Cell Genomics · Aug 15, 2022Peer-reviewedGenetic & Genomic Medicine

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni Ruotsalainen, Juulia Partanen, Anna Cichońska, Jake Lin, Christian Benner, Ida L. Surakka, FinnGen, Aarno Palotie, Mark J. Daly, Pharmaceutical companies, Howard J. Jacob, Athena Matakidou, Heiko Runz, Sally John, Robert M. Plenge, , Kari Linden

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

European Journal of Human Genetics · Oct 27, 2020Peer-reviewedGenetics

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Solveig K. Sieberts, Thanneer Malai Perumal, Minerva M. Carrasquillo, Mariet Allen, Joseph S. Reddy, Gabriel E. Hoffman, Kristen K. Dang, John N. Calley, Philip J. Ebert, James A. Eddy, Xue Wang, Anna K. Greenwood, Sara Mostafavi, Schahram Akbarian, Jaroslav M. Bendl, , Chris Gaiteri

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

Scientific Data · Oct 12, 2020Peer-reviewedGenetics