Sweat Chloride Testing in Infants Identified as Heterozygote Carriers by Newborn Screening

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Chin-Shyan Chu, Bruce C. Trapnell, S M Curristin et al. · Nature Genetics · 1993 · 514 citations

Variable Exon 9, Molecular Physiology, Mendelian Disorder +11

A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics · 1993 · 440 citations

Genetic Disorder, Genetics, Chromosomal Background +7

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Anne Marie Comeau, Frank J. Accurso, Terry B. White et al. · PEDIATRICS · 2007 · 167 citations

Early Diagnosis, Primary Care, Newborn Screening +14

Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process

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