Jessica Varilh

Transcription factors and miRNAs that regulate fetal to adult<i>CFTR</i>expression change are new targets for cystic fibrosis

Victoria Viart, Anne Bergougnoux, Jennifer Bonini et al. · European Respiratory Journal · 2014 · 73 citations · Full text

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Anne Bergougnoux, Karine Delétang, A. Pommier et al. · Journal of Cystic Fibrosis · 2018 · 45 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli et al. · Brain · 2022 · 43 citations · Full text

Genetics, Genetic Epidemiology, Pathology +21

DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis

Milena Magalhães, Isabelle Rivals, Mireille Claustres et al. · Clinical Epigenetics · 2017 · 37 citations · Full text

Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

Jennifer Bonini, Jessica Varilh, Caroline Raynal et al. · Genetics in Medicine · 2015 · 33 citations · Full text

New Therapeutic Tools, Molecular Diagnostic Techniques, Sequencing +9