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

Click to filter author papers

Genetic & Genomic Medicine· 3 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

4 shared papersGenetic & Genomic Medicine

Emma Owens

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

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, Justyne E. Ross, Namrata Khurana, Xueyang Pan, Alejandro Nieto-Patlán, Shiloh Martin, Benjamin McLean, Marwa Elnagheeb, Morton Jerome Cowan, Jennifer M. Puck, M S Hershfield, James W. Verbsky, Jolan Eszter Walter, , 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.

Genetics in Medicine · Oct 15, 2025Peer-reviewedGenetic & Genomic Medicine

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, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista K. Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, , Alison J. Coffey

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

Genetics in Medicine Open · Jan 1, 2025Peer-reviewedGenetic & Genomic Medicine

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

Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maīga, Kelly Macalalad, , 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.

Annals of Clinical and Translational Neurology · Aug 30, 2024Peer-reviewedGenetics

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

Allison Ann Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, Jennifer A. Fifita, Lyndal Henden, Ingrid M. Keseler, Steven Lenz, Heather Marriott, Emily P. McCann, Maysen Mesaros, Sarah Opie-Martin, Emma Owens, Brooke Palus, Justyne E. Ross, Zhanjun Wang, , 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.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · Mar 10, 2023Peer-reviewedGenetic & Genomic Medicine