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Contact


Email

pauljl@unimelb.edu.au

Credentials


Position
Honorary (Professorial Fellow)
Department of Paediatrics
Education
PhD
University of Melbourne
Bachelors Degree (Honours)
University of Melbourne
ORCID

0000-0003-2531-8413

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.2026.01.187
  • 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.2026.103922
  • 2026

    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.2025.103904
  • 2026

    Journal article

    Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
    DOI: 10.1016/j.ejpn.2025.12.004
  • 2018

    Journal article

    Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
    DOI: 10.12688/f1000research.13980.1
  • 2017

    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
Paul Lockhart

Latest Honours,
Awards and Fellowships


2012
NHMRC Fellowship (NHMRCF)
2008
AW Campbell award Australian Neuroscience Society
2007
Project grant 436976 (2007-2009) National Health and Medical Research Council
2007
Project grant 436977 (2007-2009) National Health and Medical Research Council

RECENT SCHOLARLY WORKS

  • 2025

    Journal article

    Genetic modifiers and ascertainment drive variable expressivity of complex disorders
    DOI: 10.1016/j.cell.2025.09.012
  • 2025

    Journal article

    Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort
    DOI: 10.1007/s12311-025-01867-2
  • 2025

    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.279634.124
  • 2025

    Journal article

    Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis
    DOI: 10.1038/s41380-024-02863-4
  • 2025

    Journal article

    The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
    DOI: 10.1093/braincomms/fcaf034
  • 2024

    Journal article

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
    DOI: 10.1038/s41467-024-49950-2

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