Author

Aishwarya Ramamurthy

Northwestern UniversityORCID 0000-0003-3965-5082Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Organism:human· 3 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:long-read sequencing· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Gemma L. CarvilliD· 3 shared Jeffrey Dennis CalhouniD· 3 shared Carina G BiariD· 2 shared Heather C. MeffordiD· 2 shared Masha D Bandouil· 2 shared Alina Izabela EsterhuizeniD· 1 shared Aparna RadhakrishnaniD· 1 shared Betselote Mekonnen· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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3 shared papersGenetics

Gemma L. CarvillORCID

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3 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedJul 21, 2026

Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene, FOXG1

Aishwarya Ramamurthy, Masha D Bandouil, Likhita Aluru…·Gemma L. Carvill

The paper identifies a regulatory region in 14q12 that affects FOXG1 expression and contributes to neurodevelopmental disorders through noncoding structural variants.

DOI 10.1038/s41467-026-75694-2

humanDNA methylation

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GeneticsbioRxivPreprintMay 4, 2023

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

Hannah C. Happ, Patricia N. Schneider, Jung Hwa Hong…·Gemma L. Carvill

The paper investigates how SCN1A variants in a poison exon cause aberrant splicing, reduced Nav1.1 protein, and epilepsy through RBP interactions.

2 citations

humanlong-read sequencing

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 8, 2022

Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting.

Alina Izabela Esterhuizen, Nicki Tiffin, Gillian Tracy Riordan…·Gemma L. Carvill

The paper identifies genetic variants in South African children with developmental and epileptic encephalopathies and proposes a 'Think-Genetics' strategy for early genetic diagnosis in resource-limited settings.

16 citations

humanwhole-exome sequencing

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