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. ncbi 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. ncbi 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 Personalized diagnosis and management of congenital cataract by next-generation sequencing
    Rachel L Gillespie
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary s Hospital, Manchester, United Kingdom
    Ophthalmology 121:2124-2137.e2. 2014
  5. 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
  6. 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

Publications6

  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. ncbi 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. ncbi 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 Personalized diagnosis and management of congenital cataract by next-generation sequencing
    Rachel L Gillespie
    Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary s Hospital, Manchester, United Kingdom
    Ophthalmology 121:2124-2137.e2. 2014
    ..To assess the utility of integrating genomic data from next-generation sequencing and phenotypic data to enhance the diagnosis of bilateral congenital cataract (CC)...
  5. 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
    ....
  6. 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...