Marjolaine Willems
Inserm(FR)Université de Montpellier(FR)Centre Hospitalier Universitaire de Montpellier(FR)Institute for Neurosciences of Montpellier(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Autism Spectrum Disorder Research
Most-Cited Works
- → Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing(2014)272 cited
- → Treacher Collins syndrome: a clinical and molecular study based on a large series of patients(2015)160 cited
- → Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum(2018)155 cited
- → Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing(2017)136 cited
- → Rituximab therapy for childhood-onset systemic lupus erythematosus(2006)135 cited
- → A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS(2014)121 cited