Author

Sanjeev S. Bhaskar

University of ManchesterORCID 0000-0002-0303-6813Unclaimed 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:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Simon G. WilliamsiD· 3 shared William G. NewmaniD· 3 shared Emma M. JenkinsoniD· 2 shared Inna A. BelyantsevaiD· 2 shared Jill E. UrquhartiD· 2 shared Kevin James MunroiD· 2 shared Kyle Thompson· 2 shared Leigh A. M. DemainiD· 2 shared

Activity by Year

2017-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Simon G. WilliamsORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 19, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

Thomas B. Smith, Robert Kopajtich, Leigh A. M. Demain…·William G. Newman

This study identifies biallelic DAP3 variants causing mitoribosomal dysfunction, leading to combined oxidative phosphorylation deficiency and Perrault syndrome-like features.

2 citations

humanproteomics

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GeneticsbioRxivPreprintApr 13, 2018

Deleterious genetic variants in NOTCH1 are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

Donna J. Page, Matthieu J. Miossec, Simon G. Williams…·Bernard D. Keavney

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.

DOI 10.1101/300905

humanwhole-exome sequencing

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GeneticsbioRxivPreprintJul 25, 2017

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

Irit Hochberg, Leigh A. M. Demain, Jill E. Urquhart…·William G. Newman

The paper identifies a homozygous variant in KIAA0391 (PRORP) as a cause of Perrault syndrome, showing reduced mitochondrial RNase P activity and impaired tRNA processing.

7 citations

humanstatistical model

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