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

by Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala
Published 2021-07-01

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...

by Deepika Polineni, Annalisa V Piccorelli, William B Hannah, Sarah N Dalrymple, Rhonda G Pace, Peter R Durie, Simon C Ling, Michael R Knowles, Jaclyn R Stonebraker
Published 2018-01-01

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

by Hong Dang, Deepika Polineni, Rhonda G Pace, Jaclyn R Stonebraker, Harriet Corvol, Garry R Cutting, Mitchell L Drumm, Lisa J Strug, Wanda K O'Neal, Michael R Knowles
Published 2020-01-01

Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC.

by Xueliang Guo, Rhonda G Pace, Jaclyn R Stonebraker, Clayton W Commander, Anthony T Dang, Mitchell L Drumm, Ann Harris, Fei Zou, Dallas M Swallow, Fred A Wright, Wanda K O'Neal, Michael R Knowles
Published 2011-01-01