Richard Leventer

24PUBLICATIONS

174CO-AUTHORS

Other European languagesEvolutionary computationNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Neonatology

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Publications (24)

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|Jul 03, 2026

Late-onset epileptic spasms: presentation, aetiology and outcome.

|Jun 24, 2026

Automated reanalysis of genomic data for rare disease diagnostics at scale.

|May 18, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|Apr 08, 2026

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Apr 29, 2025

Saturation genome editing of <i>RNU4-2</i> reveals distinct dominant and recessive neurodevelopmental disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Feb 10, 2025

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Matthew Coleman, Min Wang, Penny Snell

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Frequent Collaborators

10 joint publications

Paul J Lockhart

Rocio Rius

Katherine B Howell

Emma Macdonald-Laurs

Cas Simons

Nicola Whiffin

Chloe A Cunningham

Christel Depienne

Matthew Coleman

A Simon Harvey

Frequent Collaborators

10 joint publications

Paul J Lockhart

5 joint publications

Rocio Rius

5 joint publications

Katherine B Howell

5 joint publications

Emma Macdonald-Laurs