Research Topics
Species | Angus John ClarkeSummaryAffiliation: Cardiff University Country: UK Publications
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Detail Information
Publications
Voicing the lifeworld: Parental accounts of responsibility in genetic consultations for polycystic kidney diseaseAngus Clarke
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, Wales, UK
Soc Sci Med 72:1743-51. 2011..The affected parent often presents their lifeworld concerns as outweighing, at least for the present moment, the longer term health benefits that might accrue to their children...- Musings on genome medicine: the value of family historyAngus John Clarke
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Genome Med 1:75. 2009..Further difficulties arise with uncertainties relating to gene-gene and gene-environment interactions, which may take decades to resolve if their resolution is even possible... - Should families own genetic information? NoAngus Clarke
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XN, Wales UK
BMJ 335:23. 2007 - Genetic professionals' reports of nondisclosure of genetic risk information within familiesAngus Clarke
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XN, UK
Eur J Hum Genet 13:556-62. 2005..In most cases, the professionals took further steps to persuade their clients to make a disclosure but in no instance did the professional force a disclosure without the client's consent... - Commentary 1: Professional theories and institutional interactionAngus Clarke
Institute of Medical Genetics, Cardiff University, Wales College of Medicine, Cardiff, UK
Commun Med 2:189-91. 2005 - Preferences for communication in clinic from deaf people: a cross-sectional studyAnna Middleton
Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK
J Eval Clin Pract 16:811-7. 2010..To explore the preferences of deaf people for communication in a hospital consultation... - Stigmatization, culture and counseling a commentary on growing up and living with NF1: a UK-Bangladeshi case study - by Santi RozarioClara L Gaff
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, Wales, UK
J Genet Couns 16:561-5. 2007.... - Constructing an account by contrast in counselling for childhood genetic testingSrikant Sarangi
Health Communication Research Centre, Cardiff University, Wales, UK
Soc Sci Med 54:295-308. 2002..We conclude that the interplay between a selected set of the contrast pairs contributes towards recursive interactional patterns as far as non-directive counselling is concerned, and consequently has implications for procedural outcomes... - Dysmorphology and the spectacle of the clinicKatie Featherstone
ESRC Centre for Economic and Social Aspects of Genomics, Cardiff University, UK
Sociol Health Illn 27:551-74. 2005..The adjudication of dysmorphology is a contemporary exemplar of the spectacular... - (Mis)alignments in counseling for Huntington's Disease predictive testing: clients' responses to reflective framesSrikant Sarangi
Health Communication Research Centre, Cardiff University, Cardiff, Wales, United Kingdom
J Genet Couns 14:29-42. 2005..We suggest that clients' varied response behaviors result from the perceived need of some clients to display their 'readiness' for predictive testing-an overarching 'meta-question' posed by the very existence of the counseling protocol... - Genotype-phenotype correlations in X-linked myotubular myopathyMeriel McEntagart
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
Neuromuscul Disord 12:939-46. 2002..The high survival rate for this disorder therefore reflects intensive medical intervention without which the majority of these boys would not survive... - Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controlsJulie C Evans
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
Eur J Hum Genet 13:124-6. 2005..We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome... - Initiation of reflective frames in counseling for Huntingtons Disease predictive testingSrikant Sarangi
Health Communication Research Centre, Cardiff University, Cardiff Wales, United Kindgom
J Genet Couns 13:135-55. 2004.... - Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivationHayley Archer
Institute of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, UK
J Med Genet 44:148-52. 2007..R168X and p.T158M. The influence of X-chromosome inactivation (XCI) on clinical severity in patients with RTT with these mutations was investigated, taking into account the extent and direction of skewing... - The micropolitics of responsibility vis-à-vis autonomy: parental accounts of childhood genetic testing and (non)disclosureMichael Arribas-Ayllon
ESRC Centre for Economic and Social Aspects of Genomics, Cardiff University, Cardiff CF10 3WT, UK
Sociol Health Illn 30:255-71. 2008..Rather than simple representations, we regard these accounts as complex moral performances that seek alignment with broader bioethical discourses... - Managing self-responsibility through other-oriented blame: family accounts of genetic testingMichael Arribas-Ayllon
Cardiff University, Cardiff, South Glamorgan, UK
Soc Sci Med 66:1521-32. 2008..By extension, blaming others has moral and relational significance when competing views of genetic responsibility are at stake and when genetic understandings are incongruent... - Professional ambivalence: accounts of ethical practice in childhood genetic testingMichael Arribas-Ayllon
ESRC Centre for Economic and Social Aspects of Genomics, Cardiff University, Cardiff, Wales, UK
J Genet Couns 18:173-84. 2009..We conclude that more attention is needed to understand the way professional practitioners formulate judgements about ethical practice... - Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman
Institute of Child Health, University College London, London, UK
Eur J Hum Genet 13:1121-30. 2005.... - Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationLinda S Weaving
Western Sydney Genetics Program, The Children s Hospital at Westmead, New South Wales, Australia
Am J Hum Genet 75:1079-93. 2004..However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations... - Report from the UK and Eire Association of Genetic Nurses and Counsellors (AGNC) supervision working group on genetic counselling supervisionAlison Clarke
Northwest Regional Genetics Service, St Mary s Hospital, Manchester, UK
J Genet Couns 16:127-42. 2007..It offers a working definition of genetic counselling supervision, gives an overview of some of the literature on supervision and concludes with practice recommendations... - Confidentiality and serious harm in geneticsAngus Clarke
Eur J Hum Genet 13:399; author reply 399-400. 2005 - Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questionsPascal Borry
Eur J Hum Genet 16:139-40. 2008