Silvia De Rubeis
TitoloCitata daAnno
Synaptic, transcriptional and chromatin genes disrupted in autism
S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, AE Cicek, ...
Nature 515 (7526), 209, 2014
12672014
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
I Napoli, V Mercaldo, PP Boyl, B Eleuteri, F Zalfa, S De Rubeis, ...
Cell 134 (6), 1042-1054, 2008
4642008
Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
3512018
A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability
F Zalfa, B Eleuteri, KS Dickson, V Mercaldo, S De Rubeis, A di Penta, ...
Nature neuroscience 10 (5), 578, 2007
3412007
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
DJ Weiner, EM Wigdor, S Ripke, RK Walters, JA Kosmicki, J Grove, ...
Nature genetics 49 (7), 978, 2017
1572017
CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation
S De Rubeis, E Pasciuto, KW Li, E Fernández, D Di Marino, A Buzzi, ...
Neuron 79 (6), 1169-1182, 2013
1512013
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
X He, SJ Sanders, L Liu, S De Rubeis, ET Lim, JS Sutcliffe, ...
PLoS genetics 9 (8), e1003671, 2013
1482013
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder
CS Poultney, AP Goldberg, E Drapeau, Y Kou, H Harony-Nicolas, ...
The American Journal of Human Genetics 93 (4), 607-619, 2013
1232013
Fragile X mental retardation protein control of neuronal mRNA metabolism: Insights into mRNA stability
S De Rubeis, C Bagni
Molecular and Cellular Neuroscience 43 (1), 43-50, 2010
1082010
Genetics and genomics of autism spectrum disorder: Embracing complexity
S De Rubeis, JD Buxbaum
Human Molecular Genetics, 2015
1052015
Identification of common genetic risk variants for autism spectrum disorder
J Grove, S Ripke, TD Als, M Mattheisen, RK Walters, H Won, J Pallesen, ...
Nature genetics 51 (3), 431, 2019
1032019
Autism spectrum disorder: neuropathology and animal models
M Varghese, N Keshav, S Jacot-Descombes, T Warda, B Wicinski, ...
Acta neuropathologica 134 (4), 537-566, 2017
762017
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
S De Rubeis, C Bagni
Journal of Neurodevelopmental Disorders 3 (3), 257, 2011
732011
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
ET Lim, M Uddin, S De Rubeis, Y Chan, AS Kamumbu, X Zhang, ...
Nature neuroscience 20 (9), 1217, 2017
722017
Common risk variants identified in autism spectrum disorder
J Grove, S Ripke, TD Als, M Mattheisen, R Walters, H Won, J Pallesen, ...
BioRxiv, 224774, 2017
522017
Recent advances in the genetics of autism spectrum disorder
S De Rubeis, JD Buxbaum
Current neurology and neuroscience reports 15 (6), 36, 2015
512015
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24. 32 and a significant overlap with schizophrenia
Molecular autism 8, 1-17, 2017
492017
Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis
S De Rubeis, E Fernández, A Buzzi, D Di Marino, C Bagni
Synaptic plasticity, 517-551, 2012
462012
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles
F Tassone, S De Rubeis, C Carosi, G La Fata, G Serpa, C Raske, ...
Nucleic acids research 39 (14), 6172-6185, 2011
442011
The GABAA receptor is an FMRP target with therapeutic potential in fragile X syndrome
S Braat, C d'Hulst, I Heulens, S De Rubeis, E Mientjes, DL Nelson, ...
Cell Cycle 14 (18), 2985-2995, 2015
412015
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
Articoli 1–20