Last Posted: Nov-18-2016 10AM
Last Updated: Nov 16, 2016
- Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov - International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents
MA Jansen et al, Eur J Human Genetics, November 16, 2016 - Surprisingly few new parents enlist in study to have babys genome sequenced
J Kaiser,Science, October 19, 2016 - Managing sickle cell carrier results generated through newborn screening in Ontario: a precedent-setting policy story
RZ Hayeems et al, Genetics in Medicine, October 20, 2016 - Lab Quality Program Important to Newborn Screening
- Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
CDC Public Health Grand Rounds, Septemeber 20, 2016 - A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park Kyoung Jin, et al. Annals of laboratory medicine 2016 11 (6) 561-72 - Long-term follow-up in newborn screening: the role of collaboration
MP Wassertein, Genetics in Medicine, AUgust 25, 2016 - High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Jiang Hong, et al. European journal of medical genetics 2016 8 - Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
Hayeems Robin Z et al. Pediatrics 2016 Aug - 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler Kristi, et al. Molecular genetics and metabolism 2016 7 - Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis.
Kuznik Andreas et al. BMC health services research 2016 16(1) 304 - Infrastructure and Educational Needs of Newborn Screening Short-Term Follow-Up Programs within the Southeast Regional Newborn Screening & Genetics Collaborative: A Pilot Survey
Disease: NA; Type: Data|Education|Program; State: Multiple States - Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
Disease: NA; Type: Data; State: Multiple States - The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci Lori-Anne P, et al. Molecular genetics and metabolism 2016 7
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