J. Stonebraker

发表

Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.

M. Rosenfeld, M. Bamshad, K. Hetrick, 2022, American journal of human genetics.

Meconium ileus in cystic fibrosis is not linked to central repetitive region length variation in MUC1, MUC2, and MUC5AC.

M. Knowles, R. Pace, W. O’Neal, 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.

M. Knowles, M. Zariwala, A. Shapiro, 2022, American journal of respiratory cell and molecular biology.

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

M. Knowles, M. Zariwala, A. Shapiro, 2021, Molecular genetics & genomic medicine.

Genetic Modifiers of Cystic Fibrosis–Related Diabetes

J. Rommens, M. Drumm, F. Wright, 2013, Diabetes.

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

Michael R Knowles, Pierre-Yves Boëlle, Fred A Wright, 2012, Nature Genetics.

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

J. Rommens, M. Drumm, F. Wright, 2015, Nature Communications.

A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis Genetic modifier studies

M. Corey, J. Zieleński, M. Drumm, 2011, Pediatric pulmonology.

Defects in Yolk Sac Vasculogenesis, Chorioallantoic Fusion, and Embryonic Axis Elongation in Mice with Targeted Disruption of Yap65

T. Magnuson, E. Morin-Kensicki, S. Milgram, 2006, Molecular and Cellular Biology.

Membrane Mucin Muc4 Promotes Blood Cell Association with Tumor Cells and Mediates Efficient Metastasis in a Mouse Model of Breast Cancer

W. O'Neal, K. Carraway, C. Sweeney, 2017, Oncogene.

Calcineurin Inhibitor Effects on Growth and Phenotype of Human Airway Epithelial Cells In Vitro

S. Randell, R. Aris, J. R. Stonebraker, 2005, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Genome reference and sequence variation in the large repetitive central exon of human MUC5AC.

Max A Seibold, Olivier Fedrigo, D. Corcoran, 2013, American journal of respiratory cell and molecular biology.

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

Fred A. Wright, Fei Zou, Clayton W. Commander, 2011, Nature Genetics.

Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.

L. Liang, J. Rommens, M. Drumm, 2015, American journal of human genetics.

Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity

M. Drumm, F. Wright, P. Gallins, 2018, American journal of respiratory and critical care medicine.

Features of Severe Liver Disease With Portal Hypertension in Patients With Cystic Fibrosis.

M. Knowles, S. Ling, P. Durie, 2016, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.

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

Annalisa V. Piccorelli, Annalisa V Piccorelli, M. Knowles, 2018, PLoS ONE.

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

M. Drumm, F. Wright, F. Zou, 2011, PloS one.

Glycocalyx Restricts Adenoviral Vector Access to Apical Receptors Expressed on Respiratory Epithelium In Vitro and In Vivo: Role for Tethered Mucins as Barriers to Lumenal Infection

J. Bergelson, W. O'Neal, R. Boucher, 2004, Journal of Virology.

Adenosine deaminase 1 and concentrative nucleoside transporters 2 and 3 regulate adenosine on the apical surface of human airway epithelia: implications for inflammatory lung diseases.

R. Boucher, E. Lazarowski, M. Picher, 2007, Biochemistry.

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

M. Drumm, L. Strug, G. Cutting, 2020, PloS one.

Novel variation at chr11p13 associated with cystic fibrosis lung disease severity

M. Drumm, P. Gallins, L. Strug, 2016, Human Genome Variation.

Genome reference and sequence variation in the large repetitive central exon of human MUC5AC.

D. Corcoran, S. Ranade, Corbin D. Jones, 2013, American journal of respiratory cell and molecular biology.