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List of works by Johanna M Rommens

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

scientific article published on 6 January 2017

Bias in CFTR screening panels.

scientific article published on 29 October 2015

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

article

Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease

scientific article published on 08 April 2022

LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS

scientific article published on 22 October 2020

Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity

scientific article published on 26 January 2021

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene

scientific article published on 18 June 2015

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

scientific article

Screening for regulatory variants in 460kb encompassing the CFTR locus in cystic fibrosis patients

article

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