Depienne, Christel

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,381

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

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 429

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

Yu, D., Sul, J. H., Tsetsos, F., Nawaz, M. S., Huang, A. Y., Zelaya, I., Illmann, C., Osiecki, L., Darrow, S. M., Hirschtritt, M. E., et al. (2019) · American Journal of Psychiatry

Obsessive-Compulsive Spectrum DisordersGenetic Associations and Epidemiology

Cited by 410

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., et al. (2016) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 200

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

Hiatt, S. M., Thompson, M. L., Prokop, J. W., Lawlor, J. M. J., Gray, D. E., Bebin, E. M., Rinne, T., Kempers, M., Pfundt, R., van Bon, B. W., et al. (2019) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 29