Author

Caroline M. Mebane

Columbia University Irving Medical CenterORCID 0000-0001-8173-2200Unclaimed 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 Research Focus:cell type annotation· 1 Assay:proteomics· 1

Frequent Co-Authors

Wendy K. ChungiD· 2 shared Yufeng SheniD· 2 shared Alexa GeltzeileriD· 1 shared Aliaa H. AbdelhakimiD· 1 shared Andrew ThorntoniD· 1 shared Arne GennerichiD· 1 shared Cara H. KanneriD· 1 shared Frank A. ProvenzanoiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Wendy K. ChungORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMay 20, 2024

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

Khemika Khemakanok Sudnawa, Wenxing Li, Sean Calamia…·Wendy K. Chung

The paper reports clinical phenotypes and longitudinal adaptive function in KIF1A-associated neurological disorder and correlates them with computational predictions of genotype severity.

15 citations

humanstatistical model

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Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedJan 30, 2021

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A Associated Neurological Disorder

Lia Boyle, Lu Rao, Simranpreet Kaur…·Wendy K. Chung

This study links KIF1A variants to clinical severity in KAND by analyzing transport defects and protein dysfunction.

84 citationstop 2%

humanproteomics

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