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Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.
Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; Chitty, Lyn S; Hill, Melissa; Lewis, Celine.
Affiliation
  • Peter M; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. michelle.lowe@gosh.nhs.uk.
  • Hammond J; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK. michelle.lowe@gosh.nhs.uk.
  • Sanderson SC; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Gurasashvili J; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Hunter A; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Searle B; Our Future Health, London, UK.
  • Patch C; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Chitty LS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Hill M; Genetic Alliance UK, London, UK.
  • Lewis C; Unique - Rare Chromosome Disorder Support Group, Oxted, UK.
Eur J Hum Genet ; 30(5): 604-610, 2022 05.
Article in En | MEDLINE | ID: mdl-35264738
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parents / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Parents / Rare Diseases Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Country of publication: