Author

Shakti Agrawal

Birmingham Children's HospitalORCID 0000-0003-1298-3369Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam JacksoniD· 1 shared Alessandra RenieriiD· 1 shared Alexander J. M. BlakesiD· 1 shared Alison Milhench· 1 shared Amitav Parida· 1 shared Andrew Paul FennelliD· 1 shared Angela F. Brady· 1 shared Angelica Maria Delgado-VegaiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam JacksonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

Adam Jackson, Alexander J. M. Blakes, Bader Alhaddad…·Siddharth Banka

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

1 citation

humanstatistical model

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