Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population

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

(2015) Mei W. Baker et al.   GENETICS IN MEDICINE

Clinical expression of patients with the D1152H CFTR mutation

(2015) Vito Terlizzi et al.   Journal of Cystic Fibrosis

Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening

(2015) Denise M. Kay et al.   PEDIATRIC PULMONOLOGY

Longevity of Patients With Cystic Fibrosis in 2000 to 2010 and Beyond: Survival Analysis of the Cystic Fibrosis Foundation Patient Registry

(2014) Todd MacKenzie et al.   ANNALS OF INTERNAL MEDICINE

Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots

(2013) C. A. Saavedra-Matiz et al.   CLINICAL CHEMISTRY

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

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Committee Opinion No. 486: Update on Carrier Screening for Cystic Fibrosis

(2011)   OBSTETRICS AND GYNECOLOGY

Non-classic cystic fibrosis associated with D1152HCFTRmutation

(2009) P-R Burgel et al.   CLINICAL GENETICS

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