Author

Frederick D. Goldman

University of Alabama at BirminghamORCID 0000-0002-0764-4883Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Akila SubramaniamiD· 1 shared Brian D. AlfordiD· 1 shared Brian P. LandryiD· 1 shared David TsaoiD· 1 shared Devon B. Chandler-BrowniD· 1 shared Erik R. WestiniD· 1 shared Jennifer M. HoskoveciD· 1 shared Kevin M. Pawlik· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Akila SubramaniamORCID

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1 paper

Recent·Most cited

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemia

Erik R. Westin, David Tsao, Oguzhan Atay, Brian P. Landry, Patrick Peiyong Ye, Devon B. Chandler-Brown, Brian D. Alford, Jennifer M. Hoskovec, Akila Subramaniam, Kevin M. Pawlik, Spencer G. Kuper, Frederick D. Goldman, Tim M. Townes, Vivien Sheehan

This study validates a single-gene non-invasive prenatal test (NIPT) for sickle cell disease and beta thalassemia, showing 100% concordance with newborn screening in 79 pregnancies.

medRxiv · Sep 2, 2021 · PreprintGenetic & Genomic Medicine