Author

Angela Marcello

University of WashingtonORCID 0009-0002-4919-1752Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Research Focus:gene regulatory network inference· 3 Research Focus:benchmarking· 2 Organism:human· 2 Research Focus:database / resource· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Approach:statistical model· 1

Frequent Co-Authors

Jessica X. ChongiD· 3 shared Adam KlocperkiD· 2 shared Adam S.L. GraefeiD· 2 shared Andrés Caballero-OteyzaiD· 2 shared Catharina SchuetziD· 2 shared Chris MungalliD· 2 shared Damian P. SmedleyiD· 2 shared Daniel DanisiD· 2 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Jessica X. ChongORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedDec 23, 2025

GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders

Lauren Rekerle, Daniel Danis, Filip Rehburg…·Peter N. Robinson

The paper introduces GPSEA, a tool using GA4GH Phenopackets to analyze genotype-phenotype correlations in Mendelian disorders, identifying 225 significant associations across 85 cohorts.

DOI 10.1016/j.ajhg.2025.12.001

humanGWAS summary statistics

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Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedOct 10, 2024

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

Daniel Daniš, Michael J Bamshad, Yasemin Bridges…·Peter N. Robinson

The paper presents a large-scale corpus of standardized phenopackets for genomic diagnostics and discovery, curated from literature and useful for software testing and genotype-phenotype analysis.

20 citationstop 3%

database / resourcebenchmarking

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Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJun 16, 2023

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin…·Michael J. Bamshad

The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.

16 citations

humandifferential expression

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