Author

Elliott H. Sherr

University of California, San FranciscoORCID 0009-0008-8696-2716Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alicia B. ByrneiD· 2 shared Christopher BarnettiD· 2 shared Emanuela ArgilliiD· 2 shared Abbe LaiiD· 1 shared Alan H. BeggsiD· 1 shared Amanda M. Elashoff· 1 shared Ana TöpfiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alicia B. ByrneORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 7, 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

1 citation

humanbulk RNA-seq

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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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