Identifying facial phenotypes of genetic disorders using deep learning Y Gurovich et al, Nature Medicine

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Last Posted: Jan 10, 2019

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• Identifying facial phenotypes of genetic disorders using deep learning
  Y Gurovich et al, Nature Medicine
• Rare Disease Day at NIH 2019
  NIH, 2019
• 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
• Regenerative Medicine Therapies for Rare Diseases.
  Lapteva Larissa et al. Translational science of rare diseases 2018 Dec 3(3-4) 121-132
• Rare Disease Day 2019 theme announced: Bridging health and social care
  Rare Disease Day 2019
• AI face-scanning app spots signs of rare genetic disorders- Deep-learning algorithm helps to diagnose conditions that aren’t readily apparent to doctors or researchers. 
  E Dolgin, Nature News, January 7, 2019
• 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

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