Paul J. Lockhart

50 Flemington Road
Parkville, VIC 3052, Australia

Last Updated: 09/26/2026

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Found 141 publications

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.

Journal: Acta neuropathologica

Published: May 11, 2026

Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patients.

Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patients.

Journal: Stem cell research

Published: April 27, 2026

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 19, 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

Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1.

Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1.

Journal: Stem cell research

Published: November 23, 2025

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.

Journal: Stem cell research

Published: October 26, 2025

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.

Functional impact of genetic background on variable expressivity in neurodevelopmental disorders.

Journal: Nature communications

Published: August 11, 2025

An integrated framework for functional dissection of variable expressivity in genetic disorders.

An integrated framework for functional dissection of variable expressivity in genetic disorders.

Journal: medRxiv : the preprint server for health sciences

Published: August 08, 2025

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

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

Journal: Brain communications

Published: August 04, 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

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Journal: Cerebellum (London, England)

Published: June 01, 2025

Showing 1-12 of 141

Last Updated: 09/26/2026