Prof Paul Lockhart
Honorary (Professorial Fellow)
Department of Paediatrics
224 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy
DOI: 10.1007/s00401-026-03059-62026
Journal article
Functional impact of genetic background on variable expressivity in neurodevelopmental disorders
DOI: 10.1038/s41467-026-72598-z2026
Journal article
Generation and characterization of four iPSC and isogenic gene-corrected lines from Legius syndrome patients
DOI: 10.1016/j.scr.2026.1040262026
Journal article
SCA27A (FGF14) : une large série de 41 patients et comparaison avec SCA27B
DOI: 10.1016/j.neurol.2026.01.1872018
Journal article
Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
DOI: 10.12688/f1000research.13980.12017
Research Contracts
Victorian Collaborative Autism Study (CATS): Family and Community Study of the Genetics of Autism Spectrum Disorder
1995
Journal article
Gene amplification of the menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux
DOI: 10.1093/hmg/4.11.2117
RECENT SCHOLARLY WORKS
2026
Journal article
Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation
DOI: 10.1016/j.scr.2026.1039222026
Journal article
Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1
DOI: 10.1016/j.scr.2025.1039042026
Journal article
DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease
DOI: 10.1002/mds.704282026
Journal article
Automated reanalysis of genomic data for rare disease diagnostics at scale
DOI: 10.1038/s41591-026-04477-52026
Journal article
Late-onset epileptic spasms: presentation, aetiology and outcome
DOI: 10.1093/braincomms/fcag2242026
Journal article
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
DOI: 10.1016/j.ejpn.2025.12.004