Whole-genome sequencing of rare disease patients in a national healthcare system WH Ouwehand et al, BioRXIV preprints, January 1, 2019

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Last Posted: Jan 03, 2019

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• Whole-genome sequencing of rare disease patients in a national healthcare system
  WH Ouwehand et al, BioRXIV preprints, January 1, 2019
• Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.
  Fatania Gavin et al. Intractable & rare diseases research 2018 Nov 7(4) 236-244
• Medical Detectives: The Last Hope For Families Coping With Rare Diseases,
  NPR, December 17, 2018
• Diagnosing rare diseases after the exome
  Molecular Case Studies, Cold Spring Harbor, 2018
• Medical Detectives: The Last Hope For Families Coping With Rare Diseases
  L McClurg, NPR, December 17, 2018
• Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project.
  Dheensa Sandi et al. European journal of medical genetics 2018 Nov
• Can untreated PKU patients escape from intellectual disability? A systematic review.
  van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug (1) 149
• Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
  Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov
• Genetics meets dna methylation in rare diseases.
  Velasco Guillaume et al. Clinical genetics 2018 Nov
• Modern methods in diagnostics and research of molecular bases of rare diseases.
  Kmoch Stanislav et al. Casopis lekaru ceskych 2018 157(3) 133-136

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