Author

Brian G. Skotko

Massachusetts General HospitalORCID 0000-0002-5232-9882Unclaimed 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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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 Caleb YangiD· 1 shared Carolyn LeiD· 1 shared Christine MunroiD· 1 shared Christopher BarnettiD· 1 shared Clare BakkeriD· 1 shared Deepa Soundara RajaniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

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