Newborn screening [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: May 08, 2020

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• Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing
  MM Hendrix et al, IntJ Neonatal Screening May 2020
• Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
  McGlaughon Jennifer L et al. Molecular genetics and metabolism 128(1-2) 122-128
• Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.
  Sismanlar Eyuboglu Tugba et al. Pediatric pulmonology 2020 May
• Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges.
  Smith Laurie D et al. International journal of neonatal screening 2020 Jun 6(2)
• The first study of successful pregnancies in Chinese patients with Phenylketonuria.
  Wang Lin et al. BMC pregnancy and childbirth 2020 Apr 20(1) 253
• Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
  Boussaroque A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Apr
• Newborn Screening Program for Oman: The Time is Here and Now.
  Joshi Surendra Nath et al. Oman medical journal 2012 Sep 27(5) 346-7
• 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

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