C. Thèze

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

C. Béroud, D. Hamroun, M. Claustres, 2010, Pathologie-biologie.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

P. Fergelot, M. Claustres, A. Kitzis, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.

J. Mosser, C. Férec, Y. Deugnier, 2010, Blood cells, molecules & diseases.

A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.

M. Koenig, F. Rivier, M. Cossée, 2018, The Journal of molecular diagnostics : JMD.

A Reliable Targeted Next-Generation 75 76 Sequencing Strategy for Diagnosis of Myopathies

M. Koenig, F. Rivier, M. Cossée, 2018 .