• Publications
  • Influence
Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specializedExpand
  • 877
  • 51
  • PDF
Cystic fibrosis genetics: from molecular understanding to clinical application
  • G. Cutting
  • Biology, Medicine
  • Nature Reviews Genetics
  • 2015
The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are causedExpand
  • 514
  • 28
  • PDF
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the cystic fibrosisExpand
  • 425
  • 27
  • PDF
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotypingExpand
  • 471
  • 27
  • PDF
A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection.
An immortalized cell line was created from a primary culture of bronchial epithelia isolated from a patient with cystic fibrosis. The culture was transformed with a hybrid virus, adeno-12-SV40, whichExpand
  • 310
  • 20
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
Variable in–frame skipping of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To explore the genetic basis ofExpand
  • 487
  • 19
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
  • 368
  • 19
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
In 1997, the National Institutes of Health convened a Consensus Development Conference on Cystic Fibrosis (CF).1 The Consensus Conference recommended that genetic screening for CF mutations should beExpand
  • 400
  • 18
  • PDF
Recommendations for the classification of diseases as CFTR-related disorders.
Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a consensus definition is lacking. Here, we present a proposal for consensus guidelines on cystic fibrosisExpand
  • 268
  • 17
  • PDF
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in approximately 10% of individuals in the general population.Expand
  • 228
  • 11
...
1
2
3
4
5
...