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Email

kathryn.north@unimelb.edu.au

Credentials


Position
Honorary (Professorial Fellow)
Department of Paediatrics
Education
Doctorate (Research)
University of Melbourne
Bachelors Degree
University of Sydney
Bachelors Degree
University of Sydney
Doctorate
University of Sydney
ORCID

0000-0003-0841-8009

Prof Kathryn North

Honorary (Professorial Fellow)
Department of Paediatrics

563 Scholarly works
0 Projects

HIGHLIGHTS

  • 2016

    Journal article

    No evidence of a common DNA variant profile specific to world class endurance athletes
    DOI: 10.1371/journal.pone.0147330
  • 2014

    Journal article

    Ataluren treatment of patients with nonsense mutation dystrophinopathy
    DOI: 10.1002/mus.24332
  • 2007

    Journal article

    Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
    DOI: 10.1038/ng2122
  • 2005

    Journal article

    The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
    DOI: 10.1212/01.wnl.0000179303.72345.ce
  • 2003

    Journal article

    ACTN3 genotype is associated with human elite athletic performance
    DOI: 10.1086/377590
  • 2000

    Journal article

    Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
    DOI: 10.1038/73456
  • 1999

    Journal article

    A common nonsense mutation results in α-actinin-3 deficiency in the general population [1]
    DOI: 10.1038/7675
Kathryn North

Latest Honours,
Awards and Fellowships


2019
Peter Wills Medal - for outstanding, long-term contribution to building Australia’s international reputation in genomic medicine.
2019
2014
Fellow of Australian Academy of Health and Medical Sciences (FAHMS)
2012
Ramaciotti Medal for Excellence in Biomedical Research

RECENT SCHOLARLY WORKS

  • 2026

    Journal article

    Socially oriented attention in young children with neurofibromatosis type 1: An eye-tracking study
    DOI: 10.1111/dmcn.16497
  • 2026

    Journal article

    Sleep-Wake Dysregulation and Altered Melatonin in Neurofibromatosis Type 1.
    DOI: 10.1093/sleep/zsag037
  • 2026

    Journal article

    NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life
    DOI: 10.1212/WNL.0000000000214480
  • 2026

    Journal article

    Twisting Paths: The Paradox of Fiber Branching in Muscle Regeneration
    DOI: 10.3390/ijms27020684
  • 2025

    Journal article

    International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
    DOI: 10.1038/s41525-025-00474-8
  • 2025

    Journal article

    Generation Victoria (GenV): protocol for a longitudinal birth cohort of Victorian children and their parents
    DOI: 10.1186/s12889-024-21108-1
  • 2025

    Journal article

    ACTN3 genotype influences androgen response in developing murine skeletal muscle
    DOI: 10.1126/sciadv.adw1059
  • 2025

    Journal article

    Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments
    DOI: 10.1007/s11060-025-05024-x

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