Author

Abbey M. Putnam

East Tennessee Children's Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Abeltje M. Polstra· 1 shared Adam JacksoniD· 1 shared Adi Reich· 1 shared Alexandra Garza-Flores· 1 shared Amy E. Crunk· 1 shared Andrew E. TimmsiD· 1 shared Angela SuniD· 1 shared Annalisa VetroiD· 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 paperGenetics

Abeltje M. Polstra

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1 paper

Recent·Most cited

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, , Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetics