Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening-Reference-Cited by-同舟云学术

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Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening

Published:2011-07 Issue:15-16 Volume:412 Page:1376-1381
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Earley Marie C.,Laxova Anita,Farrell Philip M.,Driscoll-Dunn Rena,Cordovado Suzanne,Mogayzel Peter J.,Konstan Michael W.,Hannon W. Harry

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference17 articles.

1. Newborn screening: toward a uniform screening panel and system;Watson;Genet Med,2006

2. Bell CJ, editor. Newborn Screening Quality Assurance Program Annual Report (2010).

3. Dried-blood spot screening for cystic fibrosis in the newborn;Crossley;Lancet,1979

4. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants;Wilcken;J Pediatr,1983

5. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes;Sontag;J Pediatr,2005

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1. Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing;International Journal of Neonatal Screening;2020-04-30

2. Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists;Genetics in Medicine;2016-12

3. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis;Journal of Inborn Errors of Metabolism and Screening;2016-07-29

4. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study;Genetics in Medicine;2016-03

5. Personalized Drug Therapy in Cystic Fibrosis: From Fiction to Reality;Current Drug Targets;2015-08-28

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