Author

Anita Datta

University of British ColumbiaORCID 0000-0001-7620-4868Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Andrea Paras· 1 shared Anju ShuklaiD· 1 shared Aspasia Michoulas· 1 shared Barbara K. BurtoniD· 1 shared Brenda E. PorteriD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alena Jahodová

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2 papers

Recent·Most cited

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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GeneticsFrontiers in NeurologyPeer-reviewedMay 21, 2019

Diagnostic Yield And Treatment Impact Of Targeted Exome Sequencing In Early-Onset Epilepsy

Michelle K. Demos, Ilaria Guella, C DeGuzman…·Matthew James Farrer

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.

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humanwhole-exome sequencing

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