Modifier genes in Mendelian disorders: the example of cystic fibrosis

Por Cutting, Garry R.
Publicado em 2010

Annotating DNA Variants Is the Next Major Goal for Human Genetics

Por Cutting, Garry R.
Publicado em 2014

Cystic fibrosis genetics: from molecular understanding to clinical application

Por Cutting, Garry R.
Publicado no Nat Rev Genet (2014)

Assessing the Disease-Liability of Mutations in CFTR

Por Ferec, Claude, Cutting, Garry R.
Publicado em 2012

Update on gene modifiers in cystic fibrosis

Por Collaco, Joseph M., Cutting, Garry R.
Publicado em 2008

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

Por Park, Jeenah, Sharma, Neeraj, Cutting, Garry R.
Publicado em 2014

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

Por Bąk, Daniel, Cutting, Garry R., Milewski, Michał
Publicado no Cell Mol Biol Lett (2007)

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

Por Enz, Ralf, Ross, Brenda J., Cutting, Garry R.
Publicado no J Neurosci (1999)

On genomic DNA paradigms, research publications, and scholarly inquiry

Por Paalman, Mark H, Cotton, Richard GH, Cutting, Garry R
Publicado em 2010

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

Por Masica, David L., Sosnay, Patrick R., Cutting, Garry R., Karchin, Rachel
Publicado no Hum Mutat (2012)

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

Por Collaco, Joseph M., Raraigh, Karen S., Appel, Lawrence J., Cutting, Garry R.
Publicado no J Cyst Fibros (2016)

TRANSFORMATIVE THERAPIES FOR RARE CFTR MISSENSE ALLELES

Por Oliver, Kathryn E., Han, Sangwoo T., Sorscher, Eric J., Cutting, Garry R.
Publicado no Curr Opin Pharmacol (2017)

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

Por Hefferon, Timothy W., Groman, Joshua D., Yurk, Catherine E., Cutting, Garry R.
Publicado em 2004

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

Por Hefferon, Timothy W., Broackes-Carter, Fiona C., Harris, Ann, Cutting, Garry R.
Publicado em 2002

Cystic Fibrosis: NHLBI Workshop on the Primary Prevention of Chronic Lung Diseases

Por Pittman, Jessica E., Cutting, Garry, Davis, Stephanie D., Ferkol, Thomas, Boucher, Richard
Publicado no Ann Am Thorac Soc (2014)

The relationship of lung function with ambient temperature

Por Collaco, Joseph M., Appel, Lawrence J., McGready, John, Cutting, Garry R.
Publicado no PLoS One (2018)

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

Por Krasnov, Kristina V., Tzetis, Maria, Cheng, Jie, Guggino, William B., Cutting, Garry R.
Publicado em 2008

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

Por Kloch, Monika, Milewski, Michał, Nurowska, Ewa, Dworakowska, Beata, Cutting, Garry R., Dołowy, Krzysztof
Publicado em 2010

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

Por Masica, David L., Sosnay, Patrick R., Raraigh, Karen S., Cutting, Garry R., Karchin, Rachel
Publicado no Hum Mol Genet (2015)

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

Por Choi, Dong-Hoon, Kitchen, Grant B., Jennings, Mark T., Cutting, Garry R., Searson, Peter C.
Publicado no NPJ Digit Med (2020)