Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling and mutation-specific therapy

Novel CFTR Variants Identified during the First 3 Years of Cystic Fibrosis Newborn Screening in California

(2013) Lisa Prach et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Assessing the Disease-Liability of Mutations in CFTR

(2013) C. Ferec et al.   Cold Spring Harbor Perspectives in Medicine

Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

(2012) Petra Křenková et al.   Journal of Cystic Fibrosis

Lessons learned from 20 years of newborn screening for cystic fibrosis

(2012) R John H Massie et al.   MEDICAL JOURNAL OF AUSTRALIA

Cystic Fibrosis: therapies targeting specific gene defects

(2012) Rebecca M. Thursfield et al.   Paediatric Respiratory Reviews

Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre

(2011) F. N. Dijk et al.   ARCHIVES OF DISEASE IN CHILDHOOD

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recommandations françaises pour la réalisation et l’interprétation du test de la sueur dans le cadre du dépistage néonatal de la mucoviscidose

(2010) I. Sermet-Gaudelus et al.   ARCHIVES DE PEDIATRIE

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

(2010) Corinne Bareil et al.   HUMAN MUTATION

Genetic heterogeneity and cystic fibrosis

(2009) Garry R. Cutting   HUMAN MUTATION

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

(2009) C Thauvin-Robinet et al.   JOURNAL OF MEDICAL GENETICS

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

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

(2008) C. Castellani et al.   Journal of Cystic Fibrosis

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

(2008) Marie-Pierre Audrezet et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Implementation of the French Nationwide Cystic Fibrosis Newborn Screening Program

(2008) Anne Munck et al.   JOURNAL OF PEDIATRICS

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS

Newborn screening for cystic fibrosis: evidence for benefit

(2007) I. M Balfour-Lynn   ARCHIVES OF DISEASE IN CHILDHOOD