Author

Jill C. Mwenifumbo

University of British ColumbiaORCID 0000-0002-1420-1810Unclaimed 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:cell-cell communication· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Anna LehmaniD· 2 shared Alison M. ElliottiD· 1 shared Anna F. LeeiD· 1 shared Anthony Philip CooperiD· 1 shared Areesha SalmaniD· 1 shared Arezoo MohajeriiD· 1 shared Ashish SharmaiD· 1 shared Audi SetiadiiD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anna LehmanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineBloodPeer-reviewedJul 5, 2022

Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy

Mehul Sharma, Maggie P. Fu, Henry Y. Lu…·Stuart E. Turvey

The paper identifies a human with complete NFAT1 deficiency, revealing its role in joint contractures, osteochondromas, and B cell malignancy through single-cell omic analyses.

19 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsGenome MedicinePeer-reviewedAug 9, 2021

Genome-Wide Sequencing as a First-Tier Screening Test for Short Tandem Repeat Expansions

Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu…·İnanç Birol

The paper evaluates STR detection tools and develops a pipeline to identify pathogenic expansions in exome/genome data, finding 27 samples with STR mutations in 306 families.

54 citationstop 5%

humanwhole-exome sequencing

𝕏 PostBluesky