Author

Jessica M. Ewald

The Jackson Laboratory for Genomic MedicineORCID 0000-0002-4171-7230Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adam P. MatsoniD· 1 shared Cameron King· 1 shared Elizabeth A. WerreniD· 1 shared Louisa KalsneriD· 1 shared Mark D. AdamsiD· 1 shared Melissa A. Kelly· 1 shared Michael Peracchio· 1 shared Peter A. AudanoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam P. MatsonORCID

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1 paper

Recent·Most cited

GenomicsAmerican Journal of Medical Genetics Part APeer-reviewedJan 28, 2025

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome

Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald…·Adam P. Matson

The paper identifies a novel de novo PAK2 variant in a patient with Knobloch syndrome type 2, supporting PAK2's role in the disorder and expanding its clinical features.

6 citations

humanwhole-genome sequencing

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