Author

Rylee Shear

Seattle Children's Research Institute

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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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrew E. TimmsiD· 1 shared Christina M. LockwoodiD· 1 shared Colin C. PritchardiD· 1 shared Edward John NovotnyiD· 1 shared Emily Pao· 1 shared Emily S Doherty· 1 shared Filomena PirozziiD· 1 shared Francesca ForzanoiD· 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

Andrew E. TimmsORCID

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1 paper

Recent·Most cited

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, , Ghayda Mirzaa

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.

Brain · Oct 6, 2021Peer-reviewedGenetic & Genomic Medicine