• Publications
  • Influence
Cystic fibrosis genetics: from molecular understanding to clinical application
  • G. Cutting
  • Biology, Medicine
    Nature Reviews Genetics
  • 2015
TLDR
Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
TLDR
It is illustrated that sourcing data directly from well-phenotyped subjects can address the gap in the ability to interpret clinically relevant genomic variation in patients with cystic fibrosis.
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
TLDR
A reliable, single-tube multiplex–polymerase chain reaction (PCR) assay for the 6 most frequently observed determinants of -thalassemia is developed, which allows simple, high throughput genetic screening for these common hematological disorders.
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
TLDR
An inverse relationship between the length of the polythymidine tract at the exon 9 splice branch/acceptor site and the proportion of exon9− CFTR mRNA transcripts is found and strongly indicates a genetic basis in vivo modulating post–transcriptional processing of CFTR transcripts.
A Golgi-associated PDZ Domain Protein Modulates Cystic Fibrosis Transmembrane Regulator Plasma Membrane Expression*
TLDR
The regulation of CFTR in the plasma membrane involves the dynamic interaction between at least two PDZ domain proteins, CAL (CFTR associatedligand) containing two predicted coiled-coiled domains and one PDZdomain.
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
...
1
2
3
4
5
...