Silvia De Rubeis

Affiliations: 
2013- Psychiatry Icahn School of Medicine at Mount Sinai, New York, NY, United States 
Area:
autism, genetics, fragile x
Google:
"Silvia De Rubeis"
Mean distance: 14.93 (cluster 6)
 
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Publications

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Mahjani B, Dellenvall K, Grahnat AS, et al. (2020) Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS). Social Psychiatry and Psychiatric Epidemiology
Doan RN, Lim ET, De Rubeis S, et al. (2019) Recessive gene disruptions in autism spectrum disorder. Nature Genetics
Golden CEM, Breen MS, Koro L, et al. (2019) Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats. Cerebral Cortex (New York, N.Y. : 1991)
Grove J, Ripke S, Als TD, et al. (2019) Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics
Wang S, Mandell JD, Kumar Y, et al. (2018) De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 25: 3544
Wang S, Mandell JD, Kumar Y, et al. (2018) De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Cell Reports. 24: 3441-3454.e12
Barbosa M, Joshi RS, Garg P, et al. (2018) Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064
De Rubeis S, Siper PM, Durkin A, et al. (2018) Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by point mutations. Molecular Autism. 9: 31
Siper PM, De Rubeis S, Trelles MDP, et al. (2017) Prospective investigation of FOXP1 syndrome. Molecular Autism. 8: 57
Lim ET, Uddin M, De Rubeis S, et al. (2017) Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nature Neuroscience
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