Author

Bess Wayburn

Ambry Genetics (United States)

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· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Courtney ThaxtoniD· 2 shared Emma Owens· 2 shared Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared Akanchha KesariiD· 1 shared Alicia B. ByrneiD· 1 shared Alison J. CoffeyiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Courtney ThaxtonORCID

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2 papers

Recent·Most cited

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