Modifier genes in Mendelian disorders: the example of cystic fibrosis

di Cutting, Garry R.
Pubblicazione 2010

Annotating DNA Variants Is the Next Major Goal for Human Genetics

di Cutting, Garry R.
Pubblicazione 2014

Cystic fibrosis genetics: from molecular understanding to clinical application

di Cutting, Garry R.
Pubblicato in Nat Rev Genet (2014)

Assessing the Disease-Liability of Mutations in CFTR

di Ferec, Claude, Cutting, Garry R.
Pubblicazione 2012

Update on gene modifiers in cystic fibrosis

di Collaco, Joseph M., Cutting, Garry R.
Pubblicazione 2008

Melanocortin 3 Receptor Has a 5′ Exon That Directs Translation of Apically Localized Protein From the Second In-Frame ATG

di Park, Jeenah, Sharma, Neeraj, Cutting, Garry R.
Pubblicazione 2014

The CFTR-derived peptides as a model of sequence-specific protein aggregation

di Bąk, Daniel, Cutting, Garry R., Milewski, Michał
Pubblicato in Cell Mol Biol Lett (2007)

Expression of the Voltage-Gated Chloride Channel ClC-2 in Rod Bipolar Cells of the Rat Retina

di Enz, Ralf, Ross, Brenda J., Cutting, Garry R.
Pubblicato in J Neurosci (1999)

On genomic DNA paradigms, research publications, and scholarly inquiry

di Paalman, Mark H, Cotton, Richard GH, Cutting, Garry R
Pubblicazione 2010

Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis

di Masica, David L., Sosnay, Patrick R., Cutting, Garry R., Karchin, Rachel
Pubblicato in Hum Mutat (2012)

Respiratory Pathogens Mediate the Association between Lung Function and Temperature in Cystic Fibrosis

di Collaco, Joseph M., Raraigh, Karen S., Appel, Lawrence J., Cutting, Garry R.
Pubblicato in J Cyst Fibros (2016)

TRANSFORMATIVE THERAPIES FOR RARE CFTR MISSENSE ALLELES

di Oliver, Kathryn E., Han, Sangwoo T., Sorscher, Eric J., Cutting, Garry R.
Pubblicato in Curr Opin Pharmacol (2017)

A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

di Hefferon, Timothy W., Groman, Joshua D., Yurk, Catherine E., Cutting, Garry R.
Pubblicazione 2004

Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping

di Hefferon, Timothy W., Broackes-Carter, Fiona C., Harris, Ann, Cutting, Garry R.
Pubblicazione 2002

The relationship of lung function with ambient temperature

di Collaco, Joseph M., Appel, Lawrence J., McGready, John, Cutting, Garry R.
Pubblicato in PLoS One (2018)

Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships

di Krasnov, Kristina V., Tzetis, Maria, Cheng, Jie, Guggino, William B., Cutting, Garry R.
Pubblicazione 2008

The H-loop in the Second Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator is Required for Efficient Chloride Channel Closing

di Kloch, Monika, Milewski, Michał, Nurowska, Ewa, Dworakowska, Beata, Cutting, Garry R., Dołowy, Krzysztof
Pubblicazione 2010

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity

di Masica, David L., Sosnay, Patrick R., Raraigh, Karen S., Cutting, Garry R., Karchin, Rachel
Pubblicato in Hum Mol Genet (2015)

Out-of-clinic measurement of sweat chloride using a wearable sensor during low-intensity exercise

di Choi, Dong-Hoon, Kitchen, Grant B., Jennings, Mark T., Cutting, Garry R., Searson, Peter C.
Pubblicato in NPJ Digit Med (2020)

PREDICTIVE EFFECTS OF LOW BIRTH WEIGHT AND SMALL FOR GESTATIONAL AGE STATUS ON RESPIRATORY AND NUTRITIONAL OUTCOMES IN CYSTIC FIBROSIS

di Atteih, Samar E., Raraigh, Karen S., Blackman, Scott M., Cutting, Garry R., Collaco, Joseph M.
Pubblicato in J Cyst Fibros (2020)