Author

Sarah H. Elsea

Baylor College of MedicineORCID 0000-0002-1400-8519Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Charul Gijavanekar· 2 shared Abu Hena Mostafa KamaliD· 1 shared Aleksandar MilosavljeviciD· 1 shared Amrit KoiralaiD· 1 shared Amy C. GoldsteiniD· 1 shared Aneal KhaniD· 1 shared Angelina Gaspero· 1 shared Aniko SaboiD· 1 shared

Activity by Year

2026-2026 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Charul Gijavanekar

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 30, 2026

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

Hyunjung Gu, Aniko Sabo, Sharayu V. Jangam…·Katherine Y. King

DOI 10.64898/2026.09.24.26363679

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 27, 2026

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

Nathalie M. Aceves-Ewing, Nanbing Li-Villarreal, Xiaohui Li…·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.

DOI 10.64898/2026.08.24.26360911

mousemetabolomics

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Genetic & Genomic MedicinemedRxivPreprintJun 15, 2026

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease

Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

1 citation

humanproteomics

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