Author

Rachel L. Robinson

St James's University HospitalORCID 0000-0002-1710-1751Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1

Frequent Co-Authors

Alexander T HoiD· 1 shared Alistair T. PagnamentaiD· 1 shared Anthony McGuiganiD· 1 shared Carolina Jaramillo OquendoiD· 1 shared Christopher A. OdhamsiD· 1 shared Christopher M WatsoniD· 1 shared Dalia KasperavičiūtėiD· 1 shared Damian P. SmedleyiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander T HoORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 23, 2026

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Jenny Lord, Alistair T. Pagnamenta, Letizia Vestito…·Diana Baralle

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

2 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsHuman Molecular GeneticsPeer-reviewedJul 15, 2022

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for RYR1-related Malignant Hyperthermia Susceptibility

Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard…·Leslie G. Biesecker

The paper updates ACMG/AMP criteria for RYR1-related MHS and classifies 251 variants, finding that many VUS classifications lack sufficient evidence and suggesting functional studies are needed.

60 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky