Héron, Delphine

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 1,602

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., et al. (2013) · Brain

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 250

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

Karayannis, T., Au, E., Patel, J. C., Kruglikov, I., Markx, S., Delorme, R., Héron, D., Salomon, D., Glessner, J., Restituito, S., et al. (2014) · Nature

Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental Disorders

Cited by 183

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Lagrue, E., Dogan, C., De Antonio, M., Audic, F., Bach, N., Barnerias, C., Bellance, R., Cances, C., Chabrol, B., Cuisset, J.-M., et al. (2019) · Neurology

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 76

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

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

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations

Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 14