Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

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

(2012) Lei Sun et al.   NATURE GENETICS

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

MultiPhen: Joint Model of Multiple Phenotypes Can Increase Discovery in GWAS

(2012) Paul F. O’Reilly et al.   PLoS One

The many faces of pleiotropy

(2012) Annalise B. Paaby et al.   TRENDS IN GENETICS

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

(2011) Miao-Xin Li et al.   HUMAN GENETICS

Differential contribution of SLC26A9 to Cl−conductance in polarized and non-polarized epithelial cells

(2011) Jiraporn Ousingsawat et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

(2011) Fred A Wright et al.   NATURE GENETICS

Genome-wide association study identifies susceptibility loci for IgA nephropathy

(2011) Ali G Gharavi et al.   NATURE GENETICS

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

(2011) Chelsea Taylor et al.   PEDIATRIC PULMONOLOGY

Analysis of the associations between lung function and clinical features in preschool children with Cystic Fibrosis

(2011) Clement L. Ren et al.   PEDIATRIC PULMONOLOGY

Understanding the population structure of North American patients with cystic fibrosis

(2010) W Li et al.   CLINICAL GENETICS

Epidemiology, Pathophysiology, and Prognostic Implications of Cystic Fibrosis-Related Diabetes: A technical review

(2010) A. Moran et al.   DIABETES CARE

Type of CFTR Mutation Determines Risk of Pancreatitis in Patients With Cystic Fibrosis

(2010) Chee Y. Ooi et al.   GASTROENTEROLOGY

SLC26A9 stimulates CFTR expression and function in human bronchial cell lines

(2010) Martine Avella et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis

(2010) Ruslan Dorfman et al.   PEDIATRIC PULMONOLOGY

Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis?

(2010) Jo-Anne Johnson et al.   PEDIATRIC PULMONOLOGY

Reduced NHE3-mediated Na+ absorption increases survival and decreases the incidence of intestinal obstructions in cystic fibrosis mice

(2009) Emily M. Bradford et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Cystic Fibrosis-Related Diabetes: Current Trends in Prevalence, Incidence, and Mortality

(2009) A. Moran et al.   DIABETES CARE

A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis

(2009) S. M. Blackman et al.   DIABETOLOGIA

Genetic Modifiers of Liver Disease in Cystic Fibrosis

(2009) Jaclyn R. Bartlett   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Slc26a9 Is Inhibited by the R-region of the Cystic Fibrosis Transmembrane Conductance Regulator via the STAS Domain

(2009) Min-Hwang Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic Modifiers Play a Substantial Role in Diabetes Complicating Cystic Fibrosis

(2009) Scott M. Blackman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SLC26A9 is a constitutively active, CFTR-regulated anion conductance in human bronchial epithelia

(2009) Carol A. Bertrand et al.   JOURNAL OF GENERAL PHYSIOLOGY

Slc26a9—Anion Exchanger, Channel and Na+ Transporter

(2009) Min-Hwang Chang et al.   JOURNAL OF MEMBRANE BIOLOGY

Cystic Fibrosis: Refining the Approach to Newborn Screening

(2009) Bridget Wilcken   JOURNAL OF PEDIATRICS

Long-term pulmonary outcome after meconium ileus in cystic fibrosis

(2009) Matthias Kappler et al.   PEDIATRIC PULMONOLOGY

Genetic Determinants and Epidemiology of Cystic Fibrosis-Related Diabetes: Results from a British cohort of children and adults

(2008) A. I. Adler et al.   DIABETES CARE

Human solute carrier SLC6A14 is the β-alanine carrier

(2008) Catriona M. H. Anderson et al.   JOURNAL OF PHYSIOLOGY-LONDON