Chatron, Nicolas

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 65

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

Cited by 31

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 28

Clinical interest of molecular study in cases of isolated midline craniosynostosis

Di Rocco, F., Rossi, M., Verlut, I., Szathmari, A., Beuriat, P. A., Chatron, N., Chauvel-Picard, J., Mottolese, C., Monin, P., Vinchon, M., et al. (2023) · European Journal of Human Genetics

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 18

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

Poisson, A., Chatron, N., Labalme, A., Fourneret, P., Ville, D., Mathieu, M. L., Sanlaville, D., Demily, C., & Lesca, G. (2020) · BMC Medical Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 16

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Sleyp, Y., Valenzuela, I., Accogli, A., Ballon, K., Ben-Zeev, B., Berkovic, S. F., Broly, M., Callaerts, P., Caylor, R. C., Charles, P., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 10