Author

Carolyn Le

University of California, San FranciscoORCID 0009-0001-1532-7685Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Emanuela ArgilliiD· 3 shared Eleina M. England· 2 shared Elizabeth George· 2 shared Elliott H. SherriD· 2 shared Stephanie P. DiTroiaiD· 2 shared Alan H. BeggsiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Alexandra DürriD· 1 shared

Activity by Year

2024-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Emanuela ArgilliORCID

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3 papers

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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Genetic & Genomic MedicinemedRxivPreprintOct 11, 2024

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

Carolyn Le, Emanuela Argilli, Elizabeth George…·Elliott H. Sherr

2 citations

human

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedApr 1, 2024

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell…·Anne O’Donnell‐Luria

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

26 citationstop 2%

humanwhole-exome sequencing

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