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Author Details

Robert Williamson
Murdoch Children's Research Institute
1963
417
75
PMIDPaper TitleJournal TitlePublished Year
37501277Splint Quality Assessment and Improvement Among Emergency Department Staff.Adv Emerg Nurs J2023
35091509Inherited and de novo variants extend the etiology of <i>TAOK1</i>-associated neurodevelopmental disorder.Cold Spring Harb Mol Case Stud2022
35534222De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.Cold Spring Harb Mol Case Stud2022
35687047Detection of brain somatic variation in epilepsy-associated developmental lesions.Epilepsia2022
32281909If Human Brain Organoids Are the Answer to Understanding Dementia, What Are the Questions?Neuroscientist2020
33095048Reactions to the National Academies/Royal Society Report on <i>Heritable Human Genome Editing</i>.CRISPR J2020
31530809Non-invasive in vivo hyperspectral imaging of the retina for potential biomarker use in Alzheimer's disease.Nat Commun2019
28550258Effect of APOE Genotype on Amyloid Deposition, Brain Volume, and Memory in Cognitively Normal Older Individuals.J Alzheimers Dis2017
21181307Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.Stem Cell Rev Rep2011
21463501Stimulation of Activin A/Nodal signaling is insufficient to induce definitive endoderm formation of cord blood-derived unrestricted somatic stem cells.Stem Cell Res Ther2011
19760114The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis.Fam Cancer2010
19177128Southern Ocean deep-water carbon export enhanced by natural iron fertilization.Nature2009
20003538Unrestricted somatic stem cells from human umbilical cord blood grow in serum-free medium as spheres.BMC Biotechnol2009
19177134Integration of functional bacterial artificial chromosomes into human cord blood-derived multipotent stem cells.Gene Ther2009
18189288"You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP).Am J Med Genet C Semin Med Genet2008
20477216Genetics and genomics: providing new opportunities for the translation of basic research to clinical care for cystic fibrosis.Expert Rev Respir Med2008
18496574Site-specific, Rep-mediated integration of the intact beta-globin locus in the human erythroleukaemic cell line K562.Gene Ther2008
18290779Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload.Liver Int2008
18433045Cell-mediated rejection results in allograft loss after liver cell transplantation.Liver Transpl2008
17418829High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure.Fertil Steril2007
17663467"Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease.Am J Med Genet A2007
17504250COMT Val(158)Met and 5HTTLPR functional loci interact to predict persistence of anxiety across adolescence: results from the Victorian Adolescent Health Cohort Study.Genes Brain Behav2007
16631345A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia.Genomics2006
16942443Chromatin-binding regions of EBNA1 protein facilitate the enhanced transfection of Epstein-Barr virus-based vectors.Hum Gene Ther2006
16493442Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.Eur J Hum Genet2006
16421096Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation.J Biol Chem2006
15800362In the world of Dolly, when does a human embryo acquire respect?J Med Ethics2005
16412955Stem cells for the treatment of liver disease.Transpl Immunol2005
16284800A 191-kb genomic fragment containing the human alpha-globin locus can rescue alpha-thalassemic mice.Mamm Genome2005
15900225Association between the COMT Val158Met polymorphism and propensity to anxiety in an Australian population-based longitudinal study of adolescent health.Psychiatr Genet2005
15820143Transgene copy number-dependent rescue of murine beta-globin knockout mice carrying a 183 kb human beta-globin BAC genomic fragment.Biochim Biophys Acta2005
15852063Association between 5-HTTLPR genotypes and persisting patterns of anxiety and alcohol use: results from a 10-year longitudinal study of adolescent mental health.Mol Psychiatry2005
16039334Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.Lancet2005
16024970An international survey of predictive genetic testing in children for adult onset conditions.Genet Med2005
15780748A humanized mouse model for a common beta0-thalassemia mutation.Genomics2005
14645208Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin.Hum Mol Genet2004
15690978The potential of bone marrow stem cells to correct liver dysfunction in a mouse model of Wilson's disease.Cell Transplant2004
15359601Complementation of alpha-thalassaemia in alpha-globin knockout mice with a 191 kb transgene containing the human alpha-globin locus.Transgenic Res2004
15482536Liver cell transplantation leads to repopulation and functional correction in a mouse model of Wilson's disease.J Gastroenterol Hepatol2004
14739699Association between dependent smoking and a polymorphism in the tyrosine hydroxylase gene in a prospective population-based study of adolescent health.Behav Genet2004
15077008Nicotine dependence in a prospective population-based study of adolescents: the protective role of a functional tyrosine hydroxylase polymorphism.Pharmacogenetics2004
15099342Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.Clin Genet2004
15170226Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.Mamm Genome2004
12516053Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia.J Gene Med2003
26142383What Predicts the Use of Genetic Counseling Services After the Birth of a Child with Down Syndrome?J Genet Couns2003
14512968Parametric and nonparametric genome scan analyses for human handedness.Eur J Hum Genet2003
14556801Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure.Fertil Steril2003
14595065Providing services for families with a genetic condition: a contrast between cystic fibrosis and Down syndrome.Pediatrics2003
14569117Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.J Med Genet2003
12697016The "new genetics" and clinical practice.Med J Aust2003
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Collaborators

Martin Farrall
Co-authored papers 30
Brandon J Wainwright
The University of Queensland Diamantina Institute, The University of Queensland
Co-authored papers 24
Steve E Humphries
Co-authored papers 18
Xavier Estivill
Sidra Medical Center
Co-authored papers 17
Brien P Riley
Virginia Commonwealth University
Co-authored papers 8
Dawn M Waterworth
Co-authored papers 8
Alasdair Ivens
University of Washington School of Medicine
Co-authored papers 7
Mark I McCarthy
Co-authored papers 7
David Wilkes
Caryl and Israel Englander Institute for Precision Medicine.
Co-authored papers 5
Bernhard Horsthemke
Co-authored papers 5
Mikhail Nefedov
Co-authored papers 5
Arthur L Beaudet
Baylor College of Medicine
Co-authored papers 4
Lap-Chee Tsui
The University of Hong Kong
Co-authored papers 4
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 4
Julian Savulescu
Centre for Biomedical Ethics, National University of Singapore
Co-authored papers 4
Natasha J Caplen
Co-authored papers 4
Jean Weissenbach
Institut Francois Jacob, CNRS, Universite Paris-Saclay
Co-authored papers 3
Amy Nisselle
Murdoch Children's Research Institute
Co-authored papers 3
Richard K Wilson
The Ohio State University
Co-authored papers 3
Daniel C Koboldt
Institute for Genomic Medicine, Nationwide Children's Hospital
Co-authored papers 3
Michael J Owen
Co-authored papers 3
Cisca Wijmenga
Co-authored papers 3
Juha Kere
Folkhalsan Research Center, University of Helsinki
Co-authored papers 3
Rune R Frants
Co-authored papers 2
Alison M Goate
Icahn School of Medicine at Mount Sinai
Co-authored papers 2
Adam P Ostendorf
Nationwide Children's Hospital, Ohio State University
Co-authored papers 2
David A Collier
Institute of Psychiatry, King's College London
Co-authored papers 2
Catherine E Cottrell
Nationwide Children's Hospital
Co-authored papers 2
Albert de la Chapelle
The Ohio State University Comprehensive Cancer Center
Co-authored papers 2
Mark F Leppert
University of Utah
Co-authored papers 2
Release 1.2