Rare Diseases [NEW TOPIC PAGE]

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Last Posted: Feb 03, 2019

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• One In a Million 
  University of Utah, 2019
• Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
  Sobrido María-Jesús et al. Orphanet journal of rare diseases 2019 Jan 14(1) 20
• Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Kishnani Priya S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan
• The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
  N Jalkh et al, BMC Medical Genomics, January 22, 2019
• UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants
  GenomeWeb, January 17, 2019
• Identifying facial phenotypes of genetic disorders using deep learning
  Y Gurovich et al, Nature Medicine
• Evidence-based data and rare cancers: The need for a new methodological approach in research and investigation.
  Mathoulin-Pélissier S et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2019 45(1) 22-30
• Leveraging Evidence-Based Public Policy and Advocacy to Advance Newborn Screening in California.
  Bronstein Max G et al. Pediatrics 2019 Jan
• Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
  Neuheuser Lea et al. Molecular and cellular probes 2019 Jan
• Rare Disease Day at NIH 2019
  NIH, 2019

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