Author

Emma Owens

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· 5 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 6 Approach:statistical model· 6 Research Focus:variant effect prediction· 3 Research Focus:database / resource· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Brooke Palus· 4 shared Courtney ThaxtoniD· 4 shared Marwa ElnagheebiD· 4 shared Lucas Bronicki· 3 shared Akanchha KesariiD· 2 shared Amanda R. ClauseiD· 2 shared Andrew Paul LandstromiD· 2 shared Babken AsatryaniD· 2 shared

Activity by Year

2023-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Brooke Palus

Mutual co-authors in cluster

Author profile →

6 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

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie Hespe, Emma S. Singer, Chloe M. Reuter, Brittney A. Murray, Elizabeth Jordan, Jessica L. Chowns, Stacey A. Peters, Megan Mayers, Belinda R. Gray, Ray E. Hershberger, ANJALI TIKU OWENS, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, , Jodie Ingles

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

Circulation Genomic and Precision Medicine · Apr 21, 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

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. Josephs, Angharad M. Roberts, Pantazis I. Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie E. Care, Wojciech Zaręba, Arnon Adler, Amy Curry Sturm, Rafik Tadros, Valeria Novelli, , James S. Ware

The paper structures evidence on inheritance, allelic requirement, and variant classes for inherited cardiac conditions to improve variant filtering in genomic testing.

Genome Medicine · Oct 23, 2023Peer-reviewedGenetic & Genomic Medicine

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