35 Years & Growing: Personal Stories of Patient Advocacy

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Last Posted: Aug 10, 2018

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• 35 Years & Growing: Personal Stories of Patient Advocacy
  National Organization for Rare Diseases, 2018
• A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
  MJ Khoury, CDC Blog, August 2, 2018
• Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
  Bertier Gabrielle et al. Life sciences, society and policy 2018 Aug 14(1) 17
• She had a lot of rashes, but don’t all kids?
  SG Boodman, Washington Post, July 2018
• A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
  Papa Riccardo et al. Orphanet journal of rare diseases 2017 12(1) 167
• Privacy-Preserving Linkage of Genomic and Clinical Data Sets.
  Baker Dixie et al. IEEE/ACM transactions on computational biology and bioinformatics 2018 Jul
• Repositioning Drugs for Rare Immune Diseases: Hopes and Challenges for a Precision Medicine.
  Valencic Erica et al. Current medicinal chemistry 2018 25(24) 2764-2782
• Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
  Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul (4) 352-362
• Analysis of First-Year Twitter Metrics of a Rare Disease Community for Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) on Social Media: #BPDCN.
  Pemmaraju Naveen et al. Current hematologic malignancy reports 2017 Dec 12(6) 592-597
• Expanded Carrier Screening: A Rational Approach to Screening for Rare Diseases.
  Norton Mary E et al. Obstetrics and gynecology 2017 130(2) 260-261

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