Author

Ashley C. Taylor

University of Oklahoma Health Sciences CenterORCID 0009-0002-1241-2013Unclaimed 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 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Alexandrea F. Wadley· 1 shared Alyssa Gates· 1 shared Amy McTagueiD· 1 shared Angus John ClarkeiD· 1 shared Anne Michele SlavotinekiD· 1 shared Bernt PoppiD· 1 shared Boris KereniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy E Barwick, Michaela Veronika Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus John Clarke, Patrick Devine, Sandra C. Donkervoort, Jamie L. Fraser, , Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Genetics in Medicine · Dec 9, 2020Peer-reviewedGenetic & Genomic Medicine