Refinement of newborn screening for cystic fibrosis with next generation sequencing

Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices

(2021) Philip M. Farrell et al.   MOLECULAR GENETICS AND METABOLISM

Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs

(2021) Stacey L. Martiniano et al.   MOLECULAR GENETICS AND METABOLISM

Outcomes of Cystic Fibrosis Screening–Positive Infants With Inconclusive Diagnosis at School Age

(2021) Tanja Gonska et al.   PEDIATRICS

How to define CRMS/CFSPID conversion to CF

(2020) Michael J. Rock   PEDIATRIC PULMONOLOGY

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe

(2017) Jürg Barben et al.   Journal of Cystic Fibrosis

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses

(2017) Patrick R. Sosnay et al.   JOURNAL OF PEDIATRICS

Phenotypes of California CF Newborn Screen-Positive Children withCFTR5T Allele by TG Repeat Length

(2016) Danieli Barino Salinas et al.   Genetic Testing and Molecular Biomarkers

Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients

(2016) Lynn Pique et al.   GENETICS IN MEDICINE

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

(2016) Martina I. Lefterova et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

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

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

(2015) A. Munck et al.   Journal of Cystic Fibrosis

Changing incidence of cystic fibrosis in Wisconsin, USA

(2015) Katelyn Parker-McGill et al.   PEDIATRIC PULMONOLOGY

Newborn Screening for Cystic Fibrosis in California

(2015) M. Kharrazi et al.   PEDIATRICS

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening

(2012) Bradford L. Therrell et al.   MOLECULAR GENETICS AND METABOLISM

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

Clarification of Laboratory and Clinical Variables That Influence Cystic Fibrosis Newborn Screening With Initial Analysis of Immunoreactive Trypsinogen

(2009) M. Kloosterboer et al.   PEDIATRICS