Author

Mark A. Chilvers

BC Children's HospitalORCID 0000-0003-2020-9429Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:fine-mapping· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1

Frequent Co-Authors

Anat HalevyiD· 1 shared Angela Chen· 1 shared Anne L. StephensoniD· 1 shared April K. PriceiD· 1 shared Areesha SalmaniD· 1 shared Arezoo MohajeriiD· 1 shared Audi SetiadiiD· 1 shared Avery J. LamiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Anat HalevyORCID

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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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GeneticsbioRxivPreprintMar 28, 2022

High Quality Phasing Using Linked-Read Whole Genome Sequencing of Patient Cohorts Informs Genetic Understanding of Complex Traits

Scott Mastromatteo, Angela Chen, Jiafen Gong…·Lisa J. Strug

The paper uses linked-read sequencing to phase alleles in 477 CF patients, revealing haplotypes that explain disease mechanisms and contribute to understanding complex traits.

1 citation

humanwhole-genome sequencing

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