Author

Charul Gijavanekar

Baylor College of Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Organism:human· 1

Frequent Co-Authors

Bo YuaniD· 2 shared Eric VenneriD· 2 shared Richard A. GibbsiD· 2 shared Sarah H. ElseaiD· 2 shared Abu Hena Mostafa KamaliD· 1 shared Aleksandar MilosavljeviciD· 1 shared Amrit KoiralaiD· 1 shared Angelina Gaspero· 1 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bo YuanORCID

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3 papers

Recent·Most cited

Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort

Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam, H Hashimoto, Christina Y. Miyake, Bo Yuan, Charul Gijavanekar, Eric Venner, Viktoriya Korchina, Sarah H. Elsea, Donna Marie Muzny, Elizabeth A. Mizerik, Blake Vuocolo, Poyyapakkam R. Srivaths, Lisa Forbes Satter, , Katherine Y. King

medRxiv · Sep 30, 2026 · PreprintGenetic & Genomic Medicine

Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency

Nathalie M. Aceves-Ewing, Nanbing Li-Villarreal, Xiaohui Li, Seema R. Lalani, Jill A. Rosenfeld, Varduhi Petrosyan, Aleksandar Milosavljevic, Angelina Gaspero, Denise G. Lanza, Audrey E. Christiansen, Amrit Koirala, Abu Hena Mostafa Kamal, Nagireddy Putluri, Cristian Coarfa, Bao Tran, , Lindsay Catherine Burrage

The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.

medRxiv · Aug 27, 2026 · PreprintGenetic & Genomic Medicine

Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics Literature

Mullai Murugan, Bo Yuan, Joshi A. Stephen, Charul Gijavanekar, Shengfeng Xu, Senkottuvelan Kadirvel, E. Andres Rivera-Munoz, Vitor Manuel Cruz Manita, Francisco Delca, Richard A. Gibbs, Eric Venner

This paper evaluates large language models for automated PS4 evidence extraction from clinical genomics literature, finding high accuracy but model-dependent performance.

medRxiv · Feb 19, 2026 · PreprintGenetic & Genomic Medicine