C. Thèze

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges et al. · Human Mutation · 2017 · 91 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Medicine, Molecular Biology, Molecular Medicine +10

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the<i>CFTR</i>Gene

Caroline Raynal, David Baux, C. Thèze et al. · Human Mutation · 2013 · 29 citations

Life Sciences, Genetics, Molecular Genetics +17

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

Corinne Bareil, C. Thèze, Christophe Béroud et al. · Human Mutation · 2010 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Aurélien Perrin, Raúl Juntas‐Morales, François Rivier et al. · Neuromuscular Disorders · 2020 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15