Author

Rebecca Birnbaum

Icahn School of Medicine at Mount SinaiORCID 0000-0002-4206-4323Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Abraham ReichenbergiD· 1 shared Adam Naples· 1 shared Alba Sanchis‐JuaniD· 1 shared Alessandra RenieriiD· 1 shared Alfredo BruscoiD· 1 shared Andreas G. ChiocchettiiD· 1 shared Ángel CarracedoiD· 1 shared Behrang MahjaniiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

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10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abraham ReichenbergORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 26, 2026

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

F. Kyle Satterstrom, Chiara Auwerx, Jack M. Fu…·Mark J. Daly

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

3 citations

humanGWAS summary statistics

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Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedJul 16, 2026

Recall-by-Genotype of Neurodevelopmental Disorder Copy Number Variants from a Multi-Ancestry, Healthcare-System Biobank

Nina Zaks, Behrang Mahjani, Abraham Reichenberg, Rebecca Birnbaum

This study recontacts individuals with rare copy number variants associated with neurodevelopmental disorders from a multi-ancestry biobank to assess phenotypes and evaluate recall-by-genotype feasibility in psychiatry.

DOI 10.1038/s41525-026-00597-6

humanelectronic health records

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