Author

Vimla S. Aggarwal

Columbia University Irving Medical CenterORCID 0000-0003-4609-0235Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Tristan T. SandsiD· 2 shared A. Arockia Jeyaprakash· 1 shared Alejandro D. IglesiasiD· 1 shared Aleksandra HelwakiD· 1 shared Alena Jahodová· 1 shared Alicia BrandtiD· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Tristan T. SandsORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedFeb 17, 2025

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Avinash V. Dharmadhikari, Maria Alba Abad, Reza Maroofian…·Universitat Autònoma de Barcelona. Departament de Medicina

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

DOI 10.1038/s41467-025-56876-w

zebrafishwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintApr 26, 2022

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

DOI 10.1101/2022.04.26.22274147

humanstatistical model

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GenomicsbioRxivPreprintAug 12, 2020

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano…·Michael E. Talkowski

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

13 citations

humanwhole-exome sequencing

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