Prof Paul Lockhart
Honorary (Professorial Fellow)
Department of Paediatrics
218 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
SCA27A (FGF14) : une large série de 41 patients et comparaison avec SCA27B
DOI: 10.1016/j.neurol.2026.01.1872026
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
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
DOI: 10.1016/j.ejpn.2025.12.0042018
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
2025
Journal article
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
DOI: 10.1016/j.cell.2025.09.0122025
Journal article
Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
DOI: 10.1007/s12311-025-01867-22025
Journal article
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
DOI: 10.1101/gr.279634.1242025
Journal article
Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis
DOI: 10.1038/s41380-024-02863-42025
Journal article
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
DOI: 10.1093/braincomms/fcaf0342024
Journal article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
DOI: 10.1038/s41467-024-49950-2