Author

Clare Bakker

University of California, San FranciscoORCID 0000-0002-7201-8766Unclaimed ORCID profile · follow to get notified of new preprints

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Clare Bakker1 paper · Scripps Research Institute

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Genetic & Genomic Medicine· 1

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

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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 Deepa Soundara RajaniD· 1 shared

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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

Genetic & Genomic MedicinemedRxivPreprintMay 19, 2025

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…·Elliott H. Sherr

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

1 citation

humanwhole-exome sequencing

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