Author

Purvi Majethia

Manipal Academy of Higher EducationORCID 0000-0002-2364-4111Unclaimed 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:differential expression· 1 Research Focus:dimensionality reduction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anju ShuklaiD· 2 shared Afrah AlshammariiD· 1 shared Akhil Kanathay Ashokan· 1 shared Alaa A. Mohammed· 1 shared Alena Jahodová· 1 shared Allan BayatiD· 1 shared Allyn McConkie‐RoselliD· 1 shared Andrea Paras· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anju ShuklaORCID

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2 papers

Recent·Most cited

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

Ankur Chaurasia, Anju Shukla, Shruti Pande, Greeshma Purushothama, Akhil Kanathay Ashokan, Purvi Majethia, Namanpreet Kaur, Priyanka Upadhyai, Neha Quadri, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Shalini S. Nayak, Sheela Nampoothiri, Ataf Hussain Sabir, Alaa A. Mohammed, , Katta M. Girisha

The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.

European Journal of Human Genetics · Jun 27, 2026Peer-reviewedGenetic & Genomic Medicine

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

Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell, Marie McDonald, Halie J. May, Tristan T. Sands, Vimla S. Aggarwal, Christopher J. Elder, Timothy J. Feyma, Allan Bayat, Rikke Steensbjerre Møller, Christina Fenger, , Gemma L. Carvill

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

medRxiv · Apr 26, 2022 · PreprintGenetic & Genomic Medicine