Rose‐Anne Thépault

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal et al. · The American Journal of Human Genetics · 2021 · 43 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis

Cindy Maurel, Anna A. Chami, Rose‐Anne Thépault et al. · Molecular Neurobiology · 2019 · 41 citations

Life Sciences, Molecular Biology, Neuroscience +12

Epidemiological Outbreaks of Pneumocystis jirovecii Pneumonia Are Not Limited to Kidney Transplant Recipients: Genotyping Confirms Common Source of Transmission in a Liver Transplantation Unit

Guillaume Désoubeaux, Manon Dominique, Florent Morio et al. · Journal of Clinical Microbiology · 2016 · 38 citations · Full text

Veterinary Medicine, Infectious Diseases, Microbiology +16

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

Julie Tastet, Loïc Decalonne, Sylviane Marouillat et al. · Psychiatric Genetics · 2015 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

Judith Halewa, Sylviane Marouillat, Manon Dixneuf et al. · Human Mutation · 2021 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16