Author

Qifei Li

Boston Children's HospitalORCID 0000-0002-0069-8512Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 4 Approach:statistical model· 4 Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Research Focus:gene regulatory network inference· 2 Organism:mouse· 2 Assay:proteomics· 2

Frequent Co-Authors

Pankaj B. AgrawaliD· 4 shared Shiyu LuoiD· 4 shared Jasmine LiniD· 3 shared Klaus Schmitz‐AbeiD· 3 shared Alan H. BeggsiD· 1 shared Alexandra K. BlomfieldiD· 1 shared Amy TamiD· 1 shared Anne B. FultoniD· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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4 shared papersGenetics

Pankaj B. AgrawalORCID

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4 papers

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedMar 20, 2025

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

Klaus Schmitz‐Abe, Qifei Li, S. Greene…·Pankaj B. Agrawal

The paper identifies unique signatures of highly constrained genes using gnomAD and explores their association with human disease and molecular pathways.

2 citations

humanwhole-exome sequencing

Genetic & Genomic MedicinemedRxivPreprintJan 4, 2024

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

Shiyu Luo, S.D. Rollins, Klaus Schmitz‐Abe…·Pankaj B. Agrawal

The paper identifies SLC26A9 variants as modifier genes associated with rapidly progressing cystic fibrosis in patients with deltaF508 homozygous CFTR mutations.

DOI 10.1101/2024.01.04.23300546

humanbulk RNA-seq

GeneticsbioRxivPreprintOct 18, 2023

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

Shiyu Luo, Bilal K. AlWattar, Qifei Li…·Pankaj B. Agrawal

This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.

1 citation

mousehuman

Molecular BiologybioRxivPreprintApr 24, 2023

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

Qifei Li, Jasmine Lin, Shiyu Luo…·Pankaj B. Agrawal

This paper investigates the role of SPEG in skeletal muscle biology using multi-omics approaches, revealing its interaction with the myospryn complex and its impact on mitochondrial function and calcium signaling.

DOI 10.1101/2023.04.24.538136

mouseproteomics