Rare Diseases [NEW TOPIC PAGE]

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Last Posted: Mar 24, 2020

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• A community effort to identify genetic variants associated with COVID-19 susceptibility and severity 
  The Institute for Molecular Medicine, Finland, March 2020
• FDA guidance facilitates expanded use of remote monitoring devices during COVID-19 pandemic 
  Healio Cardiology Today, March 23, 2020
• Interventions to mitigate early spread of SARS-CoV-2 in Singapore: a modelling study 
  JR Koo et al, Lancet Infectious Diseases, March 23, 2020
• A SARS-CoV-2-Human Protein-Protein Interaction Map Reveals Drug Targets and Potential Drug-Repurposing 
  DE Gordon et al, BIORXIV, March 22, 2020
• For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger 
  A Joseph, Stat News, March 23, 2020
• WHO launches global megatrial of the four most promising coronavirus treatments 
  Science Magazine, March 22, 2020
• Comparative analyses of SAR-CoV2 genomes from different geographical locations and other coronavirus family genomes reveals unique features potentially consequential to host-virus interaction and pathogenesis 
  R Sardar, BIORXIV, March 21, 2020
• Why the Coronavirus Has Been So Successful 
  Ed Yong, The Atlantic, March 2020
• The coronavirus pandemic Developing and deploying tests for SARS-CoV-2 is crucial- Without them, no one knows what is going on 
  The Economist, March 19, 2020
• Coronavirus origins: genome analysis suggests two viruses may have combined 
  The Conversation, March 18, 2020
• Isolation and characterization of SARS-CoV-2 from the first US COVID-19 patient 
  J Harcourt et al, BIORXIV, March 2020
• SARS-CoV-2 Sequencing Resources 
  CDC GitHub, March 2020
• A genomics approach to females with infertility and recurrent pregnancy loss. 
  Maddirevula Sateesh et al. Human genetics 2020 Mar
• Accurate 3-gene-signature for early diagnosis of liposarcoma progression. 
  Serguienko Anastassia et al. Clinical sarcoma research 2020 104
• Clues and challenges in the diagnosis of intermittent maple syrup urine disease. 
  Pode-Shakked Naomi et al. European journal of medical genetics 2020 Mar 103901
• Current and future diagnosis of cystic fibrosis: Performance and limitations. 
  Bienvenu T et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS19-eS24
• Deep neural network classification based on somatic mutations potentially predicts clinical benefit of immune checkpoint blockade in lung adenocarcinoma. 
  Peng Jie et al. Oncoimmunology 2020 9(1) 1734156
• Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms. 
  Langan Thomas J et al. JIMD reports 2020 Mar 52(1) 35-42
• Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening. 
  Chen Dongjia et al. Journal of assisted reproduction and genetics 2020 Mar
• Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. 
  Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437