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Development (Cambridge, England)|February 8, 2008
The ATPase-dependent chaperoning activity of Hsp90a regulates thick filament formation and integration during skeletal muscle myofibrillogenesisThomas A Hawkins, Anna-Pavlina Haramis, Christelle Etard, et al.
EMBO Reports|February 17, 2025
Short internal open reading frames repress the translation of N-terminally truncated proteoformsRaphael Fettig, Zita Gonda, Niklas Walter, et al.
Human Mutation|September 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafishAlejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathySophie Scheidecker, Christelle Etard, Laurence Haren, et al.
European Journal of Human Genetics : EJHG|March 5, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesSophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi, et al.
EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
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