Jean-Louis Mandel
Affiliations: | Institut de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch-Graffenstaden, Grand Est, France |
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Sign in to add trainee| Frédéric Saudou | post-doc | 1994-1996 | Institut de Biologie Moléculaire et Cellulaire (IGBMC) |
| Barbara Bardoni | research scientist | 1997-2004 | University of Strasbourg |
| Barbara Bardoni | research scientist | 1997-2004 | University of Strasbourg |
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Publications
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| Courraud J, Engel C, Quartier A, et al. (2023) Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome. Molecular Psychiatry |
| Manole A, Efthymiou S, O'Connor E, et al. (2020) De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics |
| Lefebvre M, Bruel AL, Tisserant E, et al. (2020) Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of Medical Genetics |
| Agote-Aran A, Schmucker S, Jerabkova K, et al. (2020) Spatial control of nucleoporin condensation by fragile X-related proteins. The Embo Journal. e104467 |
| Mattioli F, Hayot G, Drouot N, et al. (2020) De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. American Journal of Human Genetics |
| Balak C, Benard M, Schaefer E, et al. (2019) Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. American Journal of Human Genetics |
| Quartier A, Courraud J, Thi Ha T, et al. (2019) Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. Human Mutation |
| Montaut S, Tranchant C, Drouot N, et al. (2018) Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders. Jama Neurology |
| Mary L, Piton A, Schaefer E, et al. (2018) Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. European Journal of Human Genetics : Ejhg |
| Kannan M, Bayam E, Wagner C, et al. (2017) WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America |