Author

Sneha Adusumilli

Northwestern UniversityORCID 0000-0003-0482-7147Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1 Molecular Biology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:electronic health records· 2 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

Alfred L. GeorgeiD· 2 shared Carlos G. VanoyeiD· 2 shared Nirvani P. JairamiD· 2 shared Reshma R. DesaiiD· 2 shared Adam S. Gordon· 1 shared Amanda S. LindyiD· 1 shared Arindam ChakrabortyiD· 1 shared Charles R. SandersiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetics

Alfred L. GeorgeORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2

Carlos G. Vanoye, Reshma R. Desai, Jordan D. John, Steven C. Hoffman, Nicolas S Fink, Yue Zhang, Omkar Venkatesh, Jonathan Roe, Sneha Adusumilli, Nirvani P. Jairam, Charles R. Sanders, Adam S. Gordon, Alfred L. George

Circulation Genomic and Precision Medicine · Nov 7, 2025Peer-reviewedGenetics

High-throughput Evaluation of Epilepsy-associated KCNQ2 Variants Reveals Functional and Pharmacological Heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani P. Jairam, Nora F. Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

JCI Insight · Feb 1, 2022Peer-reviewedNeuroscience

Orc6 at replication fork enables efficient mismatch repair

Yo-Chuen Lin, Arindam Chakraborty, Dazhen Liu, Jaba Mitra, Lyudmila Y. Kadyrova, Rosaline Y.C. Hsu, Mariam K. Arif, Sneha Adusumilli, Taekjip Ha, Farid A. Kadyrov, Kannanganattu V. Prasanth, Supriya G. Prasanth

This paper identifies hOrc6's role in promoting S-phase progression by facilitating mismatch repair complex assembly and activity at the replication fork.

bioRxiv · May 10, 2021 · PreprintMolecular Biology