Author

Eric J. Allenspach

University of WashingtonORCID 0000-0001-7346-5835Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:gene regulatory network inference· 1 Research Focus:host-pathogen & immune response· 1 Organism:mouse· 1 Research Focus:software / tool· 1

Frequent Co-Authors

Ivan Kingyue ChinniD· 2 shared Aaron B.I. RoseniD· 1 shared Abduarahman Almutairi· 1 shared Agustin Bernacchia· 1 shared Alan H. BeggsiD· 1 shared Alejandro Nieto-PatlániD· 1 shared Alexander D. VeitiD· 1 shared Ali Al-Beshri· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Ivan Kingyue ChinnORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 15, 2025

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

9 citationstop 3%

humanstatistical model

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GeneticsNature CommunicationsPeer-reviewedAug 6, 2025

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

Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers…·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.

8 citationstop 4%

humanwhole-genome sequencing

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ImmunologyDiabetesPeer-reviewedMar 6, 2025

Reduced function of the adaptor SH2B3 promotes T1D via altered γc cytokine-regulated, T cell intrinsic immune tolerance

Taylor K. Watson, Aaron B.I. Rosen, Travis Drow…·Eric J. Allenspach

This study identifies SH2B3 as a critical regulator of T cell tolerance in T1D, showing that its deficiency enhances cytokine signaling and promotes islet destruction.

4 citations

mousebulk RNA-seq

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