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Author Details

Kathryn N North
Murdoch Children's Research Institute
1984
339
76
PMIDPaper TitleJournal TitlePublished Year
36877426Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study.J Autism Dev Disord2024
37038321Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1.Child Neuropsychol2024
36868206Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.Am J Hum Genet2023
37509275Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.Cancers (Basel)2023
35445370Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.J Autism Dev Disord2023
35533133The MMAAS Project: An Observational Human Study Investigating the Effect of Anabolic Androgenic Steroid Use on Gene Expression and the Molecular Mechanism of Muscle Memory.Clin J Sport Med2023
37291213Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nat Med2023
37384446Understanding nonliteral language abilities in children with neurofibromatosis type 1.Neuropsychology2023
37475088Aligning intuition and theory: a novel approach to identifying the determinants of behaviours necessary to support implementation of evidence into practice.Implement Sci2023
34165385Development of clinical practice guidelines for allied health and nursing assessment and management of Duchenne muscular dystrophy.Disabil Rehabil2022
35733150Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics.Skelet Muscle2022
35723774A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.Neurol Sci2022
34983638Delineating the autistic phenotype in children with neurofibromatosis type 1.Mol Autism2022
34587865The mediating role of ADHD symptoms between executive function and social skills in children with neurofibromatosis type 1.Child Neuropsychol2022
34761268Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching.Hum Mol Genet2022
32815557Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.Dev Med Child Neurol2021
33600773Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.Am J Hum Genet2021
33761127Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement.Sports Med2021
33835352Correction to: Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement.Sports Med2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34950049Lifespan Analysis of Dystrophic <i>mdx</i> Fast-Twitch Muscle Morphology and Its Impact on Contractile Function.Front Physiol2021
34870681Auditory Dysfunction Among Individuals With Neurofibromatosis Type 1.JAMA Netw Open2021
34432537Dystrophin-negative slow-twitch soleus muscles are not susceptible to eccentric contraction induced injury over the lifespan of the <i>mdx</i> mouse.Am J Physiol Cell Physiol2021
34329581Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.Am J Hum Genet2021
34157503Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.Stem Cell Res2021
34215586<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasone.Sci Adv2021
31838937Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.J Atten Disord2021
33190672Profiling the Word Reading Abilities of School-Age Children with Neurofibromatosis Type 1.J Int Neuropsychol Soc2021
32523103Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3).Nat Commun2020
32022434Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1.Ann Clin Transl Neurol2020
31915397A brief history of human disease genetics.Nature2020
33091851Generation of four iPSC lines from Neurofibromatosis Type 1 patients.Stem Cell Res2020
32181506Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes.Dev Med Child Neurol2020
30609404Integrating Genomics into Healthcare: A Global Responsibility.Am J Hum Genet2019
31797581Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.Ann Clin Transl Neurol2019
29873078Attention to faces in social context in children with neurofibromatosis type 1.Dev Med Child Neurol2019
31271757Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.Am J Hum Genet2019
31558455Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study.BMJ Open2019
30842113A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol.BMJ Open2019
30791916Building a learning community of Australian clinical genomics: a social network study of the Australian Genomic Health Alliance.BMC Med2019
29266598Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.Hum Mutat2018
30166301Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial.BMJ Open2018
30097761Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.Neuropsychol Rev2018
30281865Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.Hum Mutat2018
28364401Impaired engagement of the ventral attention system in neurofibromatosis type 1.Brain Imaging Behav2018
29667706Preliteracy impairments in children with neurofibromatosis type 1.Dev Med Child Neurol2018
29412689Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy.Am J Physiol Cell Physiol2018
29691892Congenital Titinopathy: Comprehensive characterization and pathogenic insights.Ann Neurol2018
29398196Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials.J Clin Neurosci2018
29706347The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.Am J Hum Genet2018
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Collaborators

Nigel G Laing
Harry Perkins Institute of Medical Research, University of Western Australia
Co-authored papers 40
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 38
Monkol Lek
Co-authored papers 29
Alan H Beggs
Broad Institute of MIT and Harvard
Co-authored papers 23
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 19
Mark R Davis
QEII Medical Centre, Hospital Avenue
Co-authored papers 13
Maria T Acosta
National Institutes of Health
Co-authored papers 9
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 9
David H Gutmann
Co-authored papers 8
Alison G Compton
Co-authored papers 8
Roger J Packer
Brain Tumor Institute, Children's National Hospital
Co-authored papers 8
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Co-authored papers 7
Zornitza Stark
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Co-authored papers 6
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 5
Tiffany Boughtwood
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Ros Quinlivan
The Institute of Neurology, National Hospital for Neurology and Neurosurgery
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Michael J Fisher
Co-authored papers 5
Clara Gaff
Murdoch Children's Research Institute
Co-authored papers 5
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 5
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 4
Stephen W Reddel
Concord Repatriation General Hospital
Co-authored papers 4
Simon Easteal
Australian National University
Co-authored papers 4
Robert A Scott
Co-authored papers 4
Beryl B Cummings
Co-authored papers 4
Tom J Brett
Co-authored papers 3
David P Hansen
Australian e-Health Research Centre, Royal Brisbane and Women's Hospital
Co-authored papers 3
Taru Tukiainen
Co-authored papers 3
Velia M Fowler
Co-authored papers 3
Euan A Ashley
Stanford University
Co-authored papers 3
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 3
Release 1.2