Richard J. Leventer

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 173 publications

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

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

Journal: Nature genetics

Published: May 18, 2026

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Journal: Acta neuropathologica

Published: March 29, 2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: Progress in neuro-psychopharmacology & biological psychiatry

Published: November 23, 2025

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Journal: JIMD reports

Published: September 15, 2025

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Journal: The Journal of clinical investigation

Published: September 11, 2025

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

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

Journal: Nature genetics

Published: August 18, 2025

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

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

Journal: Nature genetics

Published: August 18, 2025

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

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

Journal: Brain communications

Published: August 04, 2025

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2025

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

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

Journal: Nature medicine

Published: May 21, 2025

Showing 1-12 of 173

Last Updated: 09/26/2026