Author

Kendall C. Parks

University of California, San FranciscoORCID 0000-0001-8241-7931Unclaimed 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 Organism:Drosophila· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Emanuela ArgilliiD· 2 shared Adam P GiessiD· 1 shared Afshan SiddiqiD· 1 shared Alessio MasiiD· 1 shared Alexander SieghartiD· 1 shared Alexander StuckeyiD· 1 shared Alicia B. ByrneiD· 1 shared Alona SosinskyiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Emanuela ArgilliORCID

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2 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 MedicineThe American Journal of Human GeneticsPeer-reviewedJul 7, 2023

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

45 citationstop 4%

humanDrosophila

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