Richard Leventer

25PUBLICATIONS
177CO-AUTHORS
Medical infection agents (incl. prions)Other European languagesEvolutionary computationNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (25)

|Oct 14, 2026
Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

|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.

|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 RNU4-2 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

5 joint publications

Rocio Rius

5 joint publications

Katherine B Howell

5 joint publications

Emma Macdonald-Laurs