Golzio, Christelle

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A. T., et al. (2014) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 798

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 410

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 342

Regulation of autism-relevant behaviors by cerebellar-prefrontal cortical circuits

Kelly, E., Meng, F., Fujita, H., Morgado, F., Kazemi, Y., Rice, L. C., Ren, C., Escamilla, C. O., Gibson, J. M., Sajadi, S., et al. (2020) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 280

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S., et al. (2007) · The American Journal of Human Genetics

Retinoids in leukemia and cellular processesRetinal Development and Disorders

Cited by 198

Identification of cis-suppression of human disease mutations by comparative genomics

Task Force for Neonatal Genomics, Jordan, D. M., Frangakis, S. G., Golzio, C., Cassa, C. A., Kurtzberg, J., Davis, E. E., Sunyaev, S. R., & Katsanis, N. (2015) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 115

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

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia: Expanding the Clinical Spectrum of STRA6 Mutations

Chassaing, N., Golzio, C., Odent, S., Lequeux, L., Vigouroux, A., Martinovic-Bouriel, J., Tiziano, F. D., Masini, L., Piro, F., Maragliano, G., et al. (2009) · Human Mutation

Ocular Disorders and TreatmentsRetinal Development and Disorders

Cited by 100

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions

Arbogast, T., Razaz, P., Ellegood, J., McKinstry, S. U., Erdin, S., Currall, B., Aneichyk, T., Lerch, J. P., Qiu, L. R., Rodriguiz, R. M., et al. (2019) · Human Molecular Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 52

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