Author

Sarah J. Spendlove

Brigham Young UniversityORCID 0000-0002-5439-0863Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:ChIP-seq· 1 Assay:DNA methylation· 1 Research Focus:fine-mapping· 1

Frequent Co-Authors

Bogdan PaşaniuciD· 2 shared Valerie A. ArboledaiD· 2 shared Aileen A. NavaiD· 1 shared Alexis V StephensiD· 1 shared Angela WeiiD· 1 shared Arash HeidariiD· 1 shared Benjamin A. GarciaiD· 1 shared Dianne Gomez· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bogdan PaşaniucORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 2, 2026

Genetic and transcriptomic determinants of disseminated coccidioidomycosis identify a founder variant in NLRX1 and ancestry-specific rare variants in immune response genes

Samantha L. Niles-Jensen, Sarah J. Spendlove, Alexis V Stephens…·Valerie A. Arboleda

This study identifies genetic and transcriptomic factors associated with severe coccidioidomycosis, finding a founder variant in NLRX1 linked to African ancestry and increased disease risk.

DOI 10.64898/2026.06.26.26356412

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsHuman GeneticsPeer-reviewedOct 20, 2023

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

Meghna Singh, Sarah J. Spendlove, Angela Wei…·Valerie A. Arboleda

This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.

13 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedNov 1, 2017

Local genetic correlation gives insights into the shared genetic architecture of complex traits

Huwenbo Shi, Nicholas Mancuso, Sarah J. Spendlove, Bogdan Paşaniuc

This paper introduces a method to quantify local genetic correlations between complex traits using GWAS summary data, identifying genomic regions contributing to genetic correlations and inferring causality.

356 citationstop 1%

GWAS summary statisticsstatistical model

𝕏 PostBluesky