From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
- 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 - Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
S Grosse, Blog post, March 15, 2016 - Newborn screening in the genomics era: are we ready for genome sequencing?
Genomics and Health Impact Blog - Newborn screening: Saving Lives for 50 Years
- Newborn screening: Saving Lives for 50 Years
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- A framework for assessing outcomes from newborn screening: on the road to measuring its promise.
Hinton Cynthia F et al. Molecular genetics and metabolism 2016 May - Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State.
Ding Yao et al. The Journal of pediatrics 2016 Feb - Observed and expected frequencies of structural hemoglobin variants in newborn screening surveys in Africa and the Middle East: deviations from Hardy-Weinberg equilibrium.
Piel Frédéric B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Dec - Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening.
Haynes Christopher A et al. Clinical biochemistry 2015 Oct - Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.
Held Patrice K et al. Mol. Genet. Metab. 2015 Aug 12.
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- 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] - 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] - National Coordinating Center for the Genetic Service Collaboratives (NCC)
[Disease: NA; Type: General Info; State: Multiple States] - California Newborn Screening Program
[Disease: NA; Type: Program; State: California] - Newborn Screening Home
[Disease: NA; Type: Program; State: Indiana]
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Newborn hearing screening programme in Belgium: a consensus recommendation on risk factors.
Published 2015 (Expert panel) - [New recommendations for the Dutch neonatal screening programmeA report from the Health Council of the Netherlands].
Published 2015 (Health Council of the Netherlands) - Appropriateness of newborn screening for [alpha]1-antitrypsin deficiency.
Published 2014 (Alpha-1 Foundation - Workshop Attendees) - Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.
Published 2014 (Genetic Metabolic Dietitians International) (Southeast Regional Newborn Screening and Genetics Collaborative) - Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening.
Published 2012 (Expert group)
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Human genetics 2016 Nov .
Pater Justin A, Benteau Tammy, Griffin Anne, Penney Cindy, Stanton Susan G, Predham Sarah, Kielley Bernadine, Squires Jessica, Zhou Jiayi, Li Quan, Abdelfatah Nelly, O'Rielly Darren D, Young Terry-Ly - A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Annals of laboratory medicine 2016 Nov 36 (6): 561-72.
Park Kyoung Jin, Park Seungman, Lee Eunhee, Park Jong Ho, Park June Hee, Park Hyung Doo, Lee Soo Youn, Kim Jong W - High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
European journal of medical genetics 2016 Aug .
Jiang Hong, Wu Jinhua, Ke Shengzhong, Hu Yue, Fei Anxing, Zhen Yan, Yu Jin, Zhu Kuich - 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Molecular genetics and metabolism 2016 Jul .
Bentler Kristi, Zhai Shaohui, Elsbecker Sara A, Arnold Georgianne L, Burton Barbara K, Vockley Jerry, Cameron Cynthia A, Hiner Sally J, Edick Mathew J, Berry Susan A, - The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Molecular genetics and metabolism 2016 Jul .
Schillaci Lori-Anne P, Greene Carol L, Strovel Erin, Rispoli-Joines Jessica, Spector Elaine, Woontner Michael, Scharer Gunter, Enns Gregory M, Gallagher Renata, Zinn Arthur B, McCandless Shawn E, Hoppel Charles L, Goodman Stephen I, Bedoyan Jirair
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