Author

Bethany A. Buckley

Invitae (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

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Baylor Genetics Curation Team· 1 shared Dale MuzzeyiD· 1 shared Katherine Johansen TaberiD· 1 shared Krista MoyeriD· 1 shared Kyle A. BeauchampiD· 1 shared Linyan MengiD· 1 shared Marie Balzotti· 1 shared Myriad Genetics Curation Team· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 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

1 shared paperGenetic & Genomic Medicine

Baylor Genetics Curation Team

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

Marie Balzotti, Linyan Meng, Dale Muzzey, Katherine Johansen Taber, Kyle A. Beauchamp, Myriad Genetics Curation Team, Baylor Genetics Curation Team, Rebecca Mar‐Heyming, Bethany A. Buckley, Krista Moyer

The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.

Human Mutation · May 7, 2020Peer-reviewedGenetic & Genomic Medicine