Author

Ari Grudo

Pacific Biosciences (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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aaron M. WengeriD· 1 shared Christina A. GurnettiD· 1 shared Elvisa MehinoviciD· 1 shared Jane GrimwoodiD· 1 shared Jenny M. EkholmiD· 1 shared John Nicholas ConstantinoiD· 1 shared Jonas KorlachiD· 1 shared Meghan C. CampbelliD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aaron M. WengerORCID

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1 paper

Recent·Most cited

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy

Elvisa Mehinovic, Teddi Gray, Meghan C. Campbell, Jenny M. Ekholm, Aaron M. Wenger, William J. Rowell, Ari Grudo, Jane Grimwood, Jonas Korlach, Christina A. Gurnett, John Nicholas Constantino, Tychele N. Turner

The paper identifies a de novo missense variant in KCNC2 in two affected siblings with autism and epilepsy using long-read sequencing, showing its potential clinical relevance.

American Journal of Medical Genetics Part A · Apr 2, 2022Peer-reviewedGenetic & Genomic Medicine