Author

Frank Sleutels

Erasmus MCORCID 0000-0001-6813-5209Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrew David MumfordiD· 2 shared Daniel Greene· 2 shared Ernest TurroiD· 2 shared Jonathan Gill LeesiD· 2 shared Kathleen FresoniD· 2 shared Michael O’DonoghueiD· 2 shared Rachel SchotiD· 2 shared Tahsin Stefan BarakatiD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew David MumfordORCID

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2 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

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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