Author

Nancy E. Pinnell

Massachusetts General 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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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alicia B. ByrneiD· 1 shared Amanda M. Elashoff· 1 shared Brian G. SkotkoiD· 1 shared Caleb YangiD· 1 shared Carolyn LeiD· 1 shared Christine MunroiD· 1 shared Christopher BarnettiD· 1 shared Clare BakkeriD· 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 paperGenetic & Genomic Medicine

Alicia B. ByrneORCID

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1 paper

Recent·Most cited

Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities

Emanuela Argilli, Caleb Yang, Carolyn Le, Amanda M. Elashoff, Kendall C. Parks, Clare Bakker, Brian G. Skotko, Nancy E. Pinnell, Sonal Mahida, Heather E. Olson, Kimberly Amburgey, James J. Dowling, Louisa Kalsner, Deepa Soundara Rajan, Christine Munro, , Elliott H. Sherr

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

medRxiv · May 19, 2025 · PreprintGenetic & Genomic Medicine