Silvia De Rubeis
Affiliations: | 2013- | Psychiatry | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
Area:
autism, genetics, fragile xGoogle:
"Silvia De Rubeis"Mean distance: 14.93 (cluster 6) | S | N | B | C | P |
Parents
Sign in to add mentor| Claudia Bagni | grad student | 2007-2012 | University of Rome "Tor Vergata" |
| Joseph D. Buxbaum | post-doc | 2013- | Mount Sinai School of Medicine |
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Publications
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| Pavinato L, Stanic J, Barzasi M, et al. (2023) Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100922 |
| Rots D, Jakub TE, Keung C, et al. (2023) The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American Journal of Human Genetics |
| Mercaldo V, Vidimova B, Gastaldo D, et al. (2023) Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome. Neuron |
| Giovenino C, Trajkova S, Pavinato L, et al. (2023) Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. European Journal of Human Genetics : Ejhg |
| Fu JM, Satterstrom FK, Peng M, et al. (2022) Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nature Genetics |
| Pavinato L, Delle Vedove A, Carli D, et al. (2022) CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. Brain : a Journal of Neurology |
| Brea-Fernández AJ, Álvarez-Barona M, Amigo J, et al. (2022) Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability. European Journal of Human Genetics : Ejhg |
| Mahjani B, De Rubeis S, Gustavsson Mahjani C, et al. (2021) Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Molecular Autism. 12: 65 |
| Klei L, McClain LL, Mahjani B, et al. (2021) How rare and common risk variation jointly affect liability for autism spectrum disorder. Molecular Autism. 12: 66 |
| Boitnott A, Garcia-Forn M, Ung DC, et al. (2021) Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome. Biological Psychiatry |