Jacquemont, Marie-Line

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 110

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Cartault, F., Munier, P., Jacquemont, M.-L., Vellayoudom, J., Doray, B., Payet, C., Randrianaivo, H., Laville, J.-M., Munnich, A., & Cormier-Daire, V. (2015) · European Journal of Human Genetics

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 75

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., Bacino, C. A., Craigen, W. J., Sanders, S. J., Lehmann, A., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 19