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Last Posted: Jun 16, 2020

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• Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
  Eggermann Thomas et al. Orphanet journal of rare diseases 2020 Jun 15(1) 144
• Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
  Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
• The use of machine learning in rare diseases: a scoping review
  J Schaefer et al, Orphanet J Rare Dis, June 9, 2020
• The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery.
  Phan Tri Giang et al. Journal of clinical immunology 2020 Jun
• The undiagnosed diseases program: Approach to diagnosis.
  Macnamara Ellen F et al. Translational science of rare diseases 2020 Apr 4(3-4) 179-188
• Reproductive options for families at risk of Osteogenesis Imperfecta: a review.
  Zhytnik Lidiia et al. Orphanet journal of rare diseases 2020 May 15(1) 128
• Automated syndrome diagnosis by three-dimensional facial imaging
  B Hallgrimsson et al, Genetics in Medicine, June 1, 2020
• COVID-19 Disrupting Care for Nine of 10 People with Rare Condition
  Global Genes, May 2020
• NIH-supported research survey to examine impact of COVID-19 on rare diseases community
  NIH, May 7, 2020
• Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry.
  Riera-Mestre Antoni et al. Orphanet journal of rare diseases 2019 14(1) 196

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