Author

Giusy Della Gatta

Regeneron (United States)ORCID 0000-0001-5888-6287Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Alan R. ShuldineriD· 2 shared Aris N. EconomidesiD· 2 shared Abby E. Hare-HarrisiD· 1 shared Alexander E. LopeziD· 1 shared Alicia C. Hawes· 1 shared Alicia D. HowardiD· 1 shared Andrés Moreno-De-LucaiD· 1 shared Aris BarasiD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetics

Alan R. ShuldinerORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 1, 2019

Genetic and functional evidence relates a missense variant in B4GALT1 to lower LDL-C and fibrinogen

May E. Montasser, Cristopher V. Van Hout, Rebecca J. McFarland…·Alan R. Shuldiner

The paper identifies a missense variant in B4GALT1 associated with lower LDL-C and fibrinogen, supported by genetic, functional, and glycan profiling evidence.

3 citations

zebrafishstatistical model

𝕏 PostBluesky

GenomicsbioRxivPreprintMar 22, 2017

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine…·Jeffrey G. Reid

The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky