Last Posted: Apr 23, 2020
- 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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