Author

Brooke Palus

University of North Carolina at Chapel Hill

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:database / resource· 2 Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Emma Owens· 4 shared Marwa ElnagheebiD· 4 shared Akanchha KesariiD· 2 shared Amanda R. ClauseiD· 2 shared Courtney ThaxtoniD· 2 shared Justyne E. RossiD· 2 shared Shannon M. McNultyiD· 2 shared Abduarahman Almutairi· 1 shared

Activity by Year

2023-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Emma Owens

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Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 15, 2025

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

9 citationstop 3%

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

𝕏 PostBluesky

GeneticsAnnals of Clinical and Translational NeurologyPeer-reviewedAug 30, 2024

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton…·Conrad Chris Weihl

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

4 citations

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineAmyotrophic Lateral Sclerosis and Frontotemporal DegenerationPeer-reviewedMar 10, 2023

Clinical testing panels for ALS: global distribution, consistency, and challenges

Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb…·On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

20 citations

humanGWAS summary statistics

𝕏 PostBluesky