Author

Catherine A. Cukras

National Institutes of HealthORCID 0000-0002-1147-854XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Assay:multiome· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

A. J. McKnight· 1 shared Aaron LeeiD· 1 shared Adnan TufailiD· 1 shared Aime R. Agather· 1 shared Alice PébayiD· 1 shared Amelia NaikiD· 1 shared Amy Jayne McKnightiD· 1 shared Amy Stockwell· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

A. J. McKnight

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedDec 8, 2025

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration: HTRA1/lncRNA BX842242.1 dominates, with no evidence for Complement Cascade involvement

Samaneh Farashi, Carla J. Abbott, Brendan R. E. Ansell…·Melanie Bahlo

2 citations

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintNov 2, 2023

The qMini assay identifies an overlooked class of splice variants

Bin Guan, Chelsea Bender, Madhulatha Pantrangi…·Robert B. Hufnagel

The qMini assay identifies a new class of splice variants that reduce mature mRNA levels without altering sequence, suggesting a novel pathogenic mechanism.

1 citation

multiomeexperimental assay

𝕏 PostBluesky