Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

(2013) Fredrick Van Goor et al.   Journal of Cystic Fibrosis

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Effects of Immediate Telephone Follow-Up with Providers on Sweat Chloride Test Timing after Cystic Fibrosis Newborn Screening Identifies a Single Mutation

(2012) Alison La Pean et al.   JOURNAL OF PEDIATRICS

A Decision-Tree Approach to Cost Comparison of Newborn Screening Strategies for Cystic Fibrosis

(2012) J. Wells et al.   PEDIATRICS

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

(2011) Marie C. Earley et al.   CLINICA CHIMICA ACTA

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14years of newborn screening

(2011) Mei W. Baker et al.   Journal of Cystic Fibrosis

CFTR mutation analysis and haplotype associations in CF patients

(2011) S.K. Cordovado et al.   MOLECULAR GENETICS AND METABOLISM

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

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

Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome

(2011) Clement L. Ren et al.   PEDIATRIC PULMONOLOGY

The Need for Quality Improvement in Sweat Testing Infants after Newborn Screening for Cystic Fibrosis

(2010) Vicky A. LeGrys et al.   JOURNAL OF PEDIATRICS

Development of a routine newborn screening protocol for severe combined immunodeficiency

(2009) Mei W. Baker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Impact of Fundoplication Versus Gastrojejunal Feeding Tubes on Mortality and in Preventing Aspiration Pneumonia in Young Children With Neurologic Impairment Who Have Gastroesophageal Reflux Disease

(2008) R. Srivastava et al.   PEDIATRICS

Newborn screening for cystic fibrosis: evidence for benefit

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