Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study

por Collaco, Joseph M, Blackman, Scott M, Raraigh, Karen S, Morrow, Christopher B, Cutting, Garry R, Paranjape, Shruti M
Publicado 2014

Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California

por Salinas, Danieli B., Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Publicado 2016

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

por Vecchio-Pagán, Briana, Blackman, Scott M, Lee, Melissa, Atalar, Melis, Pellicore, Matthew J, Pace, Rhonda G, Franca, Arianna L, Raraigh, Karen S, Sharma, Neeraj, Knowles, Michael R, Cutting, Garry R
Publicado 2016

Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis

por Persico, Ilaria, Feresin, Agnese, Faleschini, Michela, Fontana, Giorgia, Sirchia, Fabio, Faletra, Flavio, La Bianca, Martina, Suergiu, Sarah, Morgutti, Marcello, Maschio, Massimo, D'Adamo, Adamo Pio, Raraigh, Karen S., Savoia, Anna, Bottega, Roberta
Publicado 2022

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells

por Joynt, Anya T., Kavanagh, Erin W., Newby, Gregory A., Mitchell, Shakela, Eastman, Alice C., Paul, Kathleen C., Bowling, Alyssa D., Osorio, Derek L., Merlo, Christian A., Patel, Shivani U., Raraigh, Karen S., Liu, David R., Sharma, Neeraj, Cutting, Garry R.
Publicado 2023

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

por Joynt, Anya T., Evans, Taylor A., Pellicore, Matthew J., Davis-Marcisak, Emily F., Aksit, Melis A., Eastman, Alice C., Patel, Shivani U., Paul, Kathleen C., Osorio, Derek L., Bowling, Alyssa D., Cotton, Calvin U., Raraigh, Karen S., West, Natalie E., Merlo, Christian A., Cutting, Garry R., Sharma, Neeraj
Publicado 2020

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

por Sharma, Neeraj, Evans, Taylor A., Pellicore, Matthew J., Davis, Emily, Aksit, Melis A., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhu, Han, Sangwoo T., Anzmann, Arianna F., Lam, Anh-Thu N., Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B., Raraigh, Karen S., Sosnay, Patrick R., Cotton, Calvin U., Cutting, Garry R.
Publicado 2018

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

por Raraigh, Karen S., Paul, Kathleen C., Goralski, Jennifer L., Worthington, Erin N., Faino, Anna V., Sciortino, Stanley, Wang, Yiting, Aksit, Melis A., Ling, Hua, Osorio, Derek L., Onchiri, Frankline M., Patel, Shivani U., Merlo, Christian A., Montemayor, Kristina, Gibson, Ronald L., West, Natalie E., Thakerar, Amita, Bridges, Robert J., Sheppard, David N., Sharma, Neeraj, Cutting, Garry R.
Publicado 2022

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

por Corvol, Harriet, Blackman, Scott M., Boëlle, Pierre-Yves, Gallins, Paul J., Pace, Rhonda G., Stonebraker, Jaclyn R., Accurso, Frank J., Clement, Annick, Collaco, Joseph M., Dang, Hong, Dang, Anthony T., Franca, Arianna, Gong, Jiafen, Guillot, Loic, Keenan, Katherine, Li, Weili, Lin, Fan, Patrone, Michael V., Raraigh, Karen S., Sun, Lei, Zhou, Yi-Hui, O'Neal, Wanda K., Sontag, Marci K., Levy, Hara, Durie, Peter R., Rommens, Johanna M., Drumm, Mitchell L., Wright, Fred A., Strug, Lisa J., Cutting, Garry R., Knowles, Michael R.
Publicado 2015