Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.

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Last Posted: Jul 27, 2017

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• Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing.  
  Almannai Mohammed et al. Current opinion in pediatrics 2016 Dec (6) 694-699
• Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.  
  Osara Yetsa et al. Orphanet journal of rare diseases 2017 Jul 12(1) 132
• Different Viewpoints: International Perspectives on Newborn Screening.  
  Pollitt Rodney J et al. Journal of medical biochemistry 2015 Jan 34(1) 18-22
• Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.  
  Bravo Heydy et al. Molecular genetics and metabolism reports 2017 Sep 1292-97
• Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs.  
  Schielen Peter C J I et al. International journal of neonatal screening 2017 Jun 3(2)
• Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.  
  Burton Barbara K et al. The Journal of pediatrics 2017 Jul
• Baby Genome Sequencing for Sale in China  
  A Regalado, MIT Review, June, 2017
• Idiopathic T cell lymphopenia identified in New York State Newborn Screening.  
  Albin-Leeds Stephanie et al. Clinical immunology (Orlando, Fla.) 2017 Jul
• Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening.  
  Chien Yin-Hsiu et al. The Journal of pediatrics 2017 Jul
• Baby genome screening - paving the way to genetic discrimination?  
  MG Seidel, BMJ Opinion July 5, 2017
• Expanded Newborn Screening: Information and Resources for the Family Physician.  
  Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709
• Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.  
  Strovel Erin T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul
• Neonatal screening improves sickle cell disease clinical outcome in Belgium.  
  Lê Phu-Quoc et al. Journal of medical screening 2017 Jan 969141317701166
• Baby genome screening—paving the way to genetic discrimination?  
  MG Seidel, BMJ Opinion July 5, 2017
• Impairment Experiences, Identity and Attitudes Towards Genetic Screening: the Views of People with Spinal Muscular Atrophy.  
  Boardman Felicity K et al. Journal of genetic counseling 2017 Jun
• Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.  
  Carling R S et al. JIMD reports 2017 Jun

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