Author

Michael O’Donoghue

Nottingham University Hospitals NHS TrustORCID 0000-0002-5707-0929Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 2 Assay:whole-genome sequencing· 2 Assay:ATAC-seq· 1 Approach:Bayesian inference· 1 Assay:bulk RNA-seq· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Andrew David MumfordiD· 2 shared Daniel Greene· 2 shared Ernest TurroiD· 2 shared Frank SleutelsiD· 2 shared Jonathan Adam BernsteiniD· 2 shared Jonathan Gill LeesiD· 2 shared Kathleen FresoniD· 2 shared Kimberly M. EzelliD· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Andrew David MumfordORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees…·Ernest Turro

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

3 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedApr 10, 2025

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Gill Lees…·Ernest Turro

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

60 citationstop 1%

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineNaturePeer-reviewedJul 11, 2024

✦ In-depth digest

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

156 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky