Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

Estimating the annual number of false negative cystic fibrosis newborn screening tests

(2011) Adam Fritz et al.   PEDIATRIC PULMONOLOGY

Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

(2010) R Dorfman et al.   CLINICAL GENETICS

Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis

(2010) Charles M Strom et al.   GENETICS IN MEDICINE

A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing

(2010) Halyna Makukh et al.   Journal of Cystic Fibrosis

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm

(2010) Jaime E. Hale et al.   JOURNAL OF INHERITED METABOLIC DISEASE

European best practice guidelines for cystic fibrosis neonatal screening

(2009) Carlo Castellani et al.   Journal of Cystic Fibrosis

Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with Cystic Fibrosis Transmembrane Conductance Regulator-Related Metabolic Syndrome during the First Two Years of Life and Beyond

(2009) Drucy Borowitz et al.   JOURNAL OF PEDIATRICS

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

(2008) Els Dequeker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The prevalence of cystic fibrosis in the European Union

(2008) Philip M. Farrell   Journal of Cystic Fibrosis

Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis

(2008) Jaime E. Hale et al.   NEW ENGLAND JOURNAL OF MEDICINE