Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus

por Shapiro, Adam J., Kaspy, Kimberley, Daniels, M. Leigh Ann, Stonebraker, Jaclyn R., Nguyen, Van‐Hung, Joyal, Lyne, Knowles, Michael R., Zariwala, Maimoona A.
Publicado 2021

Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibro...

por Polineni, Deepika, Piccorelli, Annalisa V., Hannah, William B., Dalrymple, Sarah N., Pace, Rhonda G., Durie, Peter R., Ling, Simon C., Knowles, Michael R., Stonebraker, Jaclyn R.
Publicado 2018

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation

por Dang, Hong, Polineni, Deepika, Pace, Rhonda G., Stonebraker, Jaclyn R., Corvol, Harriet, Cutting, Garry R., Drumm, Mitchell L., Strug, Lisa J., O’Neal, Wanda K., Knowles, Michael R.
Publicado 2020

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity

por Dang, Hong, Gallins, Paul J, Pace, Rhonda G, Guo, Xue-liang, Stonebraker, Jaclyn R, Corvol, Harriet, Cutting, Garry R, Drumm, Mitchell L, Strug, Lisa J, Knowles, Michael R, O’Neal, Wanda K
Publicado 2016

Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity

por Dang, Hong, Gallins, Paul J, Pace, Rhonda G, Guo, Xue-liang, Stonebraker, Jaclyn R, Corvol, Harriet, Cutting, Garry R, Drumm, Mitchell L, Strug, Lisa J, Knowles, Michael R, O’Neal, Wanda K
Publicado 2017

Mucin Variable Number Tandem Repeat Polymorphisms and Severity of Cystic Fibrosis Lung Disease: Significant Association with MUC5AC

por Guo, XueLiang, Pace, Rhonda G., Stonebraker, Jaclyn R., Commander, Clayton W., Dang, Anthony T., Drumm, Mitchell L., Harris, Ann, Zou, Fei, Swallow, Dallas M., Wright, Fred A., O'Neal, Wanda K., Knowles, Michael R.
Publicado 2011

Genetic Modifiers of Cystic Fibrosis–Related Diabetes

por Blackman, Scott M., Commander, Clayton W., Watson, Christopher, Arcara, Kristin M., Strug, Lisa J., Stonebraker, Jaclyn R., Wright, Fred A., Rommens, Johanna M., Sun, Lei, Pace, Rhonda G., Norris, Sarah A., Durie, Peter R., Drumm, Mitchell L., Knowles, Michael R., Cutting, Garry R.
Publicado 2013

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

por Sun, Lei, Rommens, Johanna M, Corvol, Harriet, Li, Weili, Li, Xin, Chiang, Theodore, Lin, Fan, Dorfman, Ruslan, Busson, Pierre-François, Parekh, Rashmi V, Zelenika, Diana, Blackman, Scott, Corey, Mary, Doshi, Vishal, Henderson, Lindsay, Naughton, Kathleen, O'Neal, Wanda K, Pace, Rhonda G, Stonebraker, Jaclyn R, Wood, Sally D, Wright, Fred A, Zielenski, Julian, Clement, Annick, Drumm, Mitchell L, Boëlle, Pierre-Yves, Cutting, Garry R, Knowles, Michael R, Durie, Peter R, Strug, Lisa J
Publicado 2012

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

Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

por Wright, Fred A., Strug, Lisa J., Doshi, Vishal K., Commander, Clayton W., Blackman, Scott M., Sun, Lei, Berthiaume, Yves, Cutler, David, Cojocaru, Andreea, Collaco, J. Michael, Corey, Mary, Dorfman, Ruslan, Goddard, Katrina, Green, Deanna, Kent, Jack W., Lange, Ethan M., Lee, Seunggeun, Li, Weili, Luo, Jingchun, Mayhew, Gregory M., Naughton, Kathleen M., Pace, Rhonda G., Paré, Peter, Rommens, Johanna M., Sandford, Andrew, Stonebraker, Jaclyn R., Sun, Wei, Taylor, Chelsea, Vanscoy, Lori L., Zou, Fei, Blangero, John, Zielenski, Julian, O’Neal, Wanda K., Drumm, Mitchell L., Durie, Peter R., Knowles, Michael R., Cutting, Garry R.
Publicado 2011