Arianna L Franca

Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits

G. Cutting, M. Knowles, N. Sharma, 2016, Human Genome Variation.

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.

Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

W. Sly, Sarah M Robbins, G. Cutting, 2016, Human molecular genetics.

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

R. Karchin, C. Douville, G. Cutting, 2014, Human mutation.

Toward quality improvement in cystic fibrosis newborn screening: Progress and continuing challenges.

L. Goff, O. Sommerburg, Elizabeth S Wohler, 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.