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Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1726
By:
- Shapiro, Adam J.;
- Kaspy, Kimberley;
- Daniels, M. Leigh Ann;
- Stonebraker, Jaclyn R.;
- Nguyen, Van‐Hung;
- Joyal, Lyne;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Published in:
Nature Genetics, 2012, v. 44, n. 5, p. 562, doi. 10.1038/ng.2221
By:
- Sun, Lei;
- Rommens, Johanna M;
- Corvol, Harriet;
- Li, Weili;
- Li, Xin;
- Chiang, Theodore A;
- Lin, Fan;
- Dorfman, Ruslan;
- Busson, Pierre-François;
- Parekh, Rashmi V;
- Zelenika, Diana;
- Blackman, Scott M;
- Corey, Mary;
- Doshi, Vishal K;
- Henderson, Lindsay;
- Naughton, Kathleen M;
- O'Neal, Wanda K;
- Pace, Rhonda G;
- Stonebraker, Jaclyn R;
- Wood, Sally D
Publication type:
Article
A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies.
Published in:
Pediatric Pulmonology, 2011, v. 46, n. 9, p. 857, doi. 10.1002/ppul.21456
By:
- Taylor, Chelsea;
- Commander, Clayton W.;
- Collaco, Joseph M.;
- Strug, Lisa J.;
- Li, Weili;
- Wright, Fred A.;
- Webel, Aaron D.;
- Pace, Rhonda G.;
- Stonebraker, Jaclyn R.;
- Naughton, Kathleen;
- Dorfman, Ruslan;
- Sandford, Andrew;
- Blackman, Scott M.;
- Berthiaume, Yves;
- Paré, Peter;
- Drumm, Mitchell L.;
- Zielenski, Julian;
- Durie, Peter;
- Cutting, Garry R.;
- Knowles, Michael R.
Publication type:
Article
Mucin Variable Number Tandem Repeat Polymorphisms and Severity of Cystic Fibrosis Lung Disease: Significant Association with MUC5AC.
Published in:
PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025452
By:
- 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.
Publication type:
Article
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
Published in:
2018
By:
- Polineni, Deepika;
- Hong Dang;
- Gallins, Paul J.;
- Jones, Lisa C.;
- Pace, Rhonda G.;
- Stonebraker, Jaclyn R.;
- Commander, Leah A.;
- Krenicky, Jeanne E.;
- Yi-Hui Zhou;
- Corvol, Harriet;
- Cutting, Garry R.;
- Drumm, Mitchell L.;
- Strug, Lisa J.;
- Boyle, Michael P.;
- Durie, Peter R.;
- Chmie, James F.;
- Fei Zou;
- Wright, Fred A.;
- O'Nea, Wanda K.;
- Knowles, Michael R.
Publication type:
journal article
Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation.
Published in:
PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0239189
By:
- 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.
Publication type:
Article
A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 4, p. 511, doi. 10.1165/rcmb.2022-0176le
By:
- Shapiro, Adam J.;
- Stonebraker, Jaclyn R.;
- Knowles, Michael R.;
- Zariwala, Maimoona A.
Publication type:
Article
Genome Reference and Sequence Variation in the Large Repetitive Central Exon of Human MUC5AC.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2014, v. 50, n. 1, p. 223, doi. 10.1165/rcmb.2013-0235OC
By:
- Xueliang Guo;
- Shuo Zheng;
- Hong Dang;
- Pace, Rhonda G.;
- Stonebraker, Jaclyn R.;
- Jones, Corbin D.;
- Boellmann, Frank;
- Yuan, George;
- Haridass, Prashamsha;
- Fedrigo, Olivier;
- Corcoran, David L.;
- Seibold, Max A.;
- Ranade, Swati S.;
- Knowles, Michael R.;
- O'Neal, Wanda K.;
- Voynow, Judith A.
Publication type:
Article
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Published in:
Nature Communications, 2015, v. 6, n. 9, p. 8382, doi. 10.1038/ncomms9382
By:
- 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
Publication type:
Article
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 fibrosis population.
Published in:
PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205257
By:
- 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.
Publication type:
Article
Genetic modifiers of cystic fibrosis-related diabetes.
Published in:
2013
By:
- 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
Publication type:
journal article
Genetic Modifiers of Cystic Fibrosis--Related Diabetes.
Published in:
Diabetes, 2013, v. 62, n. 10, p. 3627, doi. 10.2337/db13-0510
By:
- Blackman, Scott M.;
- Commander, Clayton W.;
- Watson, Christopher;
- Arcara, Kristin M.;
- Strug, Lisa J.;
- Stonebraker, Jaclyn R.;
- Wright, Fred A.;
- Rommens, Johanna M.;
- Lei Sun;
- Pace, Rhonda G.;
- Norris, Sarah A.;
- Durie, Peter R.;
- Drumm, Mitchell L.;
- Knowles, Michael R.;
- Cutting, Garry R.
Publication type:
Article

Found: 12