Author

Nima Parvaneh

Children's Medical CenterORCID 0000-0002-3397-9716Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:scRNA-seq· 1

Frequent Co-Authors

Anne PueliD· 2 shared Isabelle MeytsiD· 2 shared Jean‐Laurent CasanovaiD· 2 shared Mana MomenilandiiD· 2 shared Mohammad ShahrooeiiD· 2 shared Quentin PhilippotiD· 2 shared Vivien BéziatiD· 2 shared Alexander HoischeniD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetics

Anne PuelORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

GeneticsThe Journal of Experimental MedicinePeer-reviewedJul 9, 2026

✦ In-depth digest

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis

Diana Olguín-Calderón, Laura E. Kilpatrick, Clément Conil…·Stéphanie Boisson‐Dupuis

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

1 citation

humanwhole-exome sequencing

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