Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders

Yazar: De Rubeis, Silvia, Bagni, Claudia
Baskı/Yayın Bilgisi 2011

Genetics and genomics of autism spectrum disorder: embracing complexity

Yazar: De Rubeis, Silvia, Buxbaum, Joseph D.
Yayımlandı Hum Mol Genet (2015)

Phelan McDermid syndrome: from genetic discoveries to animal models and treatments

Yazar: Harony-Nicolas, Hala, De Rubeis, Silvia, Buxbaum, Joseph D.
Yayımlandı J Child Neurol (2015)

Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability

Yazar: Golden, Carla E.M., Buxbaum, Joseph D., De Rubeis, Silvia
Yayımlandı Curr Opin Neurobiol (2017)

Linking Autism Risk Genes to Disruption of Cortical Development

Yazar: Garcia-Forn, Marta, Boitnott, Andrea, Akpinar, Zeynep, De Rubeis, Silvia
Yayımlandı Cells (2020)

Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism

Yazar: Ionita-Laza, Iuliana, Capanu, Marinela, De Rubeis, Silvia, McCallum, Kenneth, Buxbaum, Joseph D.
Yayımlandı PLoS Genet (2014)

FXR2P Exerts a Positive Translational Control and Is Required for the Activity-Dependent Increase of PSD95 Expression

Yazar: Fernández, Esperanza, Li, Ka Wan, Rajan, Nicholas, De Rubeis, Silvia, Fiers, Mark, Smit, August B., Achsel, Tilmann, Bagni, Claudia
Yayımlandı J Neurosci (2015)

Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles(†)

Yazar: Tassone, Flora, De Rubeis, Silvia, Carosi, Chiara, La Fata, Giorgio, Serpa, Gisele, Raske, Christopher, Willemsen, Rob, Hagerman, Paul J., Bagni, Claudia
Baskı/Yayın Bilgisi 2011

A new function for the Fragile X Mental Retardation Protein in the regulation of PSD-95 mRNA stability

Yazar: Zalfa, Francesca, Eleuteri, Boris, Dickson, Kirsten S., Mercaldo, Valentina, De Rubeis, Silvia, di Penta, Alessandra, Tabolacci, Elisabetta, Chiurazzi, Pietro, Neri, Giovanni, Grant, Seth G.N., Bagni, Claudia
Baskı/Yayın Bilgisi 2007

Autism spectrum disorder: Neuropathology and animal models

Yazar: Varghese, Merina, Keshav, Neha, Jacot-Descombes, Sarah, Warda, Tahia, Wicinski, Bridget, Dickstein, Dara L., Harony-Nicolas, Hala, De Rubeis, Silvia, Drapeau, Elodie, Buxbaum, Joseph D., Hof, Patrick R.
Yayımlandı Acta Neuropathol (2017)

The GABA(A) receptor is an FMRP target with therapeutic potential in fragile X syndrome

Yazar: Braat, Sien, D'Hulst, Charlotte, Heulens, Inge, De Rubeis, Silvia, Mientjes, Edwin, Nelson, David L, Willemsen, Rob, Bagni, Claudia, Van Dam, Debby, De Deyn, Peter P, Kooy, R Frank
Yayımlandı Cell Cycle (2015)

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

Yazar: Pavinato, Lisa, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro, Tartaglia, Marco, Pessia, Mauro, Tucker, Stephen J., D’Adamo, Maria Cristina, Brusco, Alfredo
Yayımlandı Int J Mol Sci (2021)

Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats

Yazar: Golden, Carla E M, Breen, Michael S, Koro, Lacin, Sonar, Sankalp, Niblo, Kristi, Browne, Andrew, Burlant, Natalie, Di Marino, Daniele, De Rubeis, Silvia, Baxter, Mark G, Buxbaum, Joseph D, Harony-Nicolas, Hala
Yayımlandı Cereb Cortex (2019)

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

Yazar: He, Xin, Sanders, Stephan J., Liu, Li, De Rubeis, Silvia, Lim, Elaine T., Sutcliffe, James S., Schellenberg, Gerard D., Gibbs, Richard A., Daly, Mark J., Buxbaum, Joseph D., State, Matthew W., Devlin, Bernie, Roeder, Kathryn
Baskı/Yayın Bilgisi 2013

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Yazar: De Rubeis, Silvia, Siper, Paige M., Durkin, Allison, Weissman, Jordana, Muratet, François, Halpern, Danielle, Trelles, Maria del Pilar, Frank, Yitzchak, Lozano, Reymundo, Wang, A. Ting, Holder, J. Lloyd, Betancur, Catalina, Buxbaum, Joseph D., Kolevzon, Alexander
Yayımlandı Mol Autism (2018)

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

Yazar: Poultney, Christopher S., Goldberg, Arthur P., Drapeau, Elodie, Kou, Yan, Harony-Nicolas, Hala, Kajiwara, Yuji, De Rubeis, Silvia, Durand, Simon, Stevens, Christine, Rehnström, Karola, Palotie, Aarno, Daly, Mark J., Ma’ayan, Avi, Fromer, Menachem, Buxbaum, Joseph D.
Baskı/Yayın Bilgisi 2013

Recessive gene disruptions in autism spectrum disorder

Yazar: Doan, Ryan N, Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., Yu, Timothy W.
Yayımlandı Nat Genet (2019)

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders

Yazar: Alfieri, Annalisa, Sorokina, Oksana, Adrait, Annie, Angelini, Costanza, Russo, Isabella, Morellato, Alessandro, Matteoli, Michela, Menna, Elisabetta, Boeri Erba, Elisabetta, McLean, Colin, Armstrong, J. Douglas, Ala, Ugo, Buxbaum, Joseph D., Brusco, Alfredo, Couté, Yohann, De Rubeis, Silvia, Turco, Emilia, Defilippi, Paola
Yayımlandı Front Mol Neurosci (2017)

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

Yazar: De Rubeis, Silvia, Pasciuto, Emanuela, Li, Ka Wan, Fernández, Esperanza, Di Marino, Daniele, Buzzi, Andrea, Ostroff, Linnaea E., Klann, Eric, Zwartkruis, Fried J.T., Komiyama, Noboru H., Grant, Seth G.N., Poujol, Christel, Choquet, Daniel, Achsel, Tilmann, Posthuma, Danielle, Smit, August B., Bagni, Claudia
Baskı/Yayın Bilgisi 2013

Prospective investigation of FOXP1 syndrome

Yazar: Siper, Paige M., De Rubeis, Silvia, Trelles, Maria del Pilar, Durkin, Allison, Di Marino, Daniele, Muratet, François, Frank, Yitzchak, Lozano, Reymundo, Eichler, Evan E., Kelly, Morgan, Beighley, Jennifer, Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Bernier, Raphael A., Kolevzon, Alexander, Buxbaum, Joseph D.
Yayımlandı Mol Autism (2017)