Author

Catherine M. Biggs

University of British ColumbiaORCID 0000-0002-4363-2660Unclaimed 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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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:proteomics· 1

Frequent Co-Authors

Clara van KarnebeekiD· 2 shared Henry Y. LuiD· 2 shared Maggie P. FuiD· 2 shared Maryam Vaseghi‐ShanjaniiD· 2 shared Mehul SharmaiD· 2 shared Stuart E. TurveyiD· 2 shared Susan Xiaoqin LiniD· 2 shared Alexander HoischeniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Clara van KarnebeekORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJournal of Clinical ImmunologyPeer-reviewedApr 28, 2025

A germline heterozygous dominant negative IKZF2 variant causing syndromic primary immune regulatory disorder and ICHAD

Henry Y. Lu, Maryam Vaseghi‐Shanjani, Avery J. Lam…·Stuart E. Turvey

The paper describes a germline variant in IKZF2 causing immune dysregulation, including AIHA and atopic dermatitis, and reports single-cell RNA sequencing findings on T cell dysfunction.

6 citations

humanbulk RNA-seq

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Genetic & Genomic MedicineThe Journal of Experimental MedicinePeer-reviewedFeb 10, 2023

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

Mehul Sharma, Daniel Leung, Mana Momenilandi…·Stuart E. Turvey

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

125 citationstop 1%

humanstatistical model

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