Simon C Ramsden

Summary

Publications

  1. pmc Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, Saint Mary s Hospital, Hathersage Road, Manchester M13OJH, UK
    BMC Med Genet 11:70. 2010
  2. doi request reprint A clinical molecular genetic service for United Kingdom families with choroideraemia
    Simon C Ramsden
    Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom
    Eur J Med Genet 56:432-8. 2013
  3. doi request reprint A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
    James O'Sullivan
    Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary s Hospital, Manchester, UK
    J Med Genet 49:322-6. 2012
  4. ncbi request reprint Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, St Mary s Hospital, Manchester, UK
    Genet Test 10:147-56. 2006
  5. ncbi request reprint EQUAL-quant: an international external quality assessment scheme for real-time PCR
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, St Mary s Hospital, Manchester, UK, and Institute of Medical Statistics and Biometry, University of Milan, Italy
    Clin Chem 52:1584-91. 2006

Collaborators

Detail Information

Publications5

  1. pmc Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, Saint Mary s Hospital, Hathersage Road, Manchester M13OJH, UK
    BMC Med Genet 11:70. 2010
    ..Given the diversity of techniques available, there is a need for consensus testing and reporting guidelines...
  2. doi request reprint A clinical molecular genetic service for United Kingdom families with choroideraemia
    Simon C Ramsden
    Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom
    Eur J Med Genet 56:432-8. 2013
    ..Case studies demonstrate the need to provide genetic testing to families and the potential clinical utility of testing...
  3. doi request reprint A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
    James O'Sullivan
    Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary s Hospital, Manchester, UK
    J Med Genet 49:322-6. 2012
    ..This study examines the possibility of incorporating NGS into a clinical UK service context...
  4. ncbi request reprint Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, St Mary s Hospital, Manchester, UK
    Genet Test 10:147-56. 2006
    ....
  5. ncbi request reprint EQUAL-quant: an international external quality assessment scheme for real-time PCR
    Simon C Ramsden
    National Genetics Reference Laboratory Manchester, St Mary s Hospital, Manchester, UK, and Institute of Medical Statistics and Biometry, University of Milan, Italy
    Clin Chem 52:1584-91. 2006
    ..We report here the results of the EQUAL-quant program, which assesses standards in the use of TaqMan probes, one of the most widely used assays in the implementation of real-time PCR...