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International Journal of Molecular Sciences|January 8, 2023
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase DeficiencyStephen J Staklinski, Sarah Snanoudj, Anne-Marie Guerrot, et al.
Viruses|May 27, 2023
Evaluation of Analytical and Clinical Performance and Usefulness in a Real-Life Hospital Setting of Two in-House Real-Time RT-PCR Assays to Track SARS-CoV-2 Variants of ConcernAlice Moisan, Anaïs Soares, Fabienne De Oliveira, et al.
Molecular Cytogenetics|December 2, 2025
Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencingGrégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, et al.
European Journal of Medical Genetics|February 11, 2021
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutationsJuliette Coursimault, François Lecoquierre, Pascale Saugier-Veber, et al.
European Journal of Medical Genetics|July 5, 2022
Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C geneJuliette Coursimault, Alice Goldenberg, Gaël Nicolas, et al.
Scientific Reports|March 4, 2024
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencingFrançois Lecoquierre, Kévin Cassinari, Nathalie Drouot, et al.
European Journal of Medical Genetics|September 28, 2019
Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposisFrançois Lecoquierre, Kévin Cassinari, Pascal Chambon, et al.
Familial Cancer|October 29, 2017
Cost-effectiveness evaluation of pre-counseling telephone interviews before face-to-face genetic counseling in cancer geneticsGaëlle Collet, Nathalie Parodi, Kevin Cassinari, et al.
Human Genetics|September 22, 2022
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophyMyriam Vezain, Christel Thauvin-Robinet, Yoann Vial, et al.
Life (Basel, Switzerland)|March 6, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationIvana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, et al.
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