Newborn screening [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Apr 23, 2020

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• Clinical Genomics Data for Precision Medicine
  S Garcia et al, Health IT Buzz, April 22, 2020
• Detection of alpha-1 antitrypsin deficiency: the past, present and future.
  Brantly Mark et al. Orphanet journal of rare diseases 2020 Apr 15(1) 96
• Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
  Yang Nan et al. Journal of pediatric endocrinology & metabolism : JPEM 2020 Apr
• A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.
  Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
• Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
  Dezfouli Mahya et al. Frontiers in immunology 2020 11455
• Newborn screening of mucopolysaccharidoses: past, present, and future.
  Arunkumar Nivethitha et al. Journal of human genetics 2020 Apr
• Assessing the newborn screening education needs of families living in medically underserved areas.
  Evans Adrianna et al. Journal of genetic counseling 2020 Mar
• Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.
  Sontag Marci K et al. PloS one 2020 15(4) e0231050
• The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
  Januska Megan N et al. Journal of genetic counseling 2020 Mar
• Comparison of Video, App, and Standard Consent Processes on Decision-Making for Biospecimen Research: A Randomized Controlled Trial.
  Rothwell Erin et al. Journal of empirical research on human research ethics : JERHRE 2020 Apr 1556264620913455

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