Leblond, Claire S.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., et al. (2015) · Science

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 966

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

Schmeisser, M. J., Ey, E., Wegener, S., Bockmann, J., Stempel, A. V., Kuebler, A., Janssen, A.-L., Udvardi, P. T., Shiban, E., Spilker, C., et al. (2012) · Nature

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 638

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 429

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

Toro, R., Konyukh, M., Delorme, R., Leblond, C., Chaste, P., Fauchereau, F., Coleman, M., Leboyer, M., Gillberg, C., & Bourgeron, T. (2010) · Trends in Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 331

SHANK1 Deletions in Males with Autism Spectrum Disorder

Sato, D., Lionel, A. C., Leblond, C. S., Prasad, A., Pinto, D., Walker, S., O'Connor, I., Russell, C., Drmic, I. E., Hamdan, F. F., et al. (2012) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 318

Genetic correlates of phenotypic heterogeneity in autism

Warrier, V., Zhang, X., Reed, P., Havdahl, A., Moore, T. M., Cliquet, F., Leblond, C. S., Rolland, T., Rosengren, A., LEAP, E.-A., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 152

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

Alcalay, R. N., Mallett, V., Vanderperre, B., Tavassoly, O., Dauvilliers, Y., Wu, R. Y. J., Ruskey, J. A., Leblond, C. S., Ambalavanan, A., Laurent, S. B., et al. (2019) · Movement Disorders

Parkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders Research

Cited by 110

Social and non-social autism symptoms and trait domains are genetically dissociable

Warrier, V., Toro, R., Won, H., Leblond, C. S., Cliquet, F., Delorme, R., De Witte, W., Bralten, J., Chakrabarti, B., Børglum, A. D., et al. (2019) · Communications Biology

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 94

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders: The melatonin pathway in ADHD

Chaste, P., Clement, N., Botros, H. G., Guillaume, J.-L., Konyukh, M., Pagan, C., Scheid, I., Nygren, G., Anckarsäter, H., Rastam, M., et al. (2011) · Journal of Pineal Research

Circadian rhythm and melatoninAttention Deficit Hyperactivity Disorder

Cited by 67