Author

Saikat Santra

Birmingham Children's HospitalORCID 0000-0002-7497-3556Unclaimed 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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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Rita HorváthiD· 2 shared Robert William TayloriD· 2 shared Adam JacksoniD· 1 shared Adnan Yousaf Manzur· 1 shared Ahmad AlahmadiD· 1 shared Alexander J. M. BlakesiD· 1 shared Amy Goldstein· 1 shared André B. P. KuilenburgiD· 1 shared

Activity by Year

2019-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rita HorváthORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 4, 2024

Genetic Risk of Axonal Neuropathy Following Infection

J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman

The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.

DOI 10.1101/2024.10.04.24314535

humanstatistical model

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GeneticsScientific ReportsPeer-reviewedJun 14, 2024

All three MutL complexes are required for repeat expansion in a human stem cell model of CAG-repeat expansion mediated glutaminase deficiency.

Bruce E. Hayward, Daman Kumari, Saikat Santra…·Karen Usdin

10 citations

humanexperimental assay

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GeneticsHuman MutationPeer-reviewedMay 2, 2019

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich…·Michal A. Minczuk

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

51 citations

humanDNA methylation

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