Works matching AU De Rubeis, Silvia

Results: 32

Neuronal diversity and stereotypy at multiple scales through whole brain morphometry.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-54745-6

By:

Liu, Yufeng;
Jiang, Shengdian;
Li, Yingxin;
Zhao, Sujun;
Yun, Zhixi;
Zhao, Zuo-Han;
Zhang, Lingli;
Wang, Gaoyu;
Chen, Xin;
Manubens-Gil, Linus;
Hang, Yuning;
Gong, Qiaobo;
Li, Yuanyuan;
Qian, Penghao;
Qu, Lei;
Garcia-Forn, Marta;
Wang, Wei;
De Rubeis, Silvia;
Wu, Zhuhao;
Osten, Pavel

Publication type:

Article

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

Published in:

Cell Cycle, 2015, v. 14, n. 18, p. 2985, doi. 10.4161/15384101.2014.989114

By:

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

Publication type:

Article

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

Published in:

Journal of Neuroscience, 2015, v. 35, n. 25, p. 9402, doi. 10.1523/JNEUROSCI.4800-14.2015

By:

Fernández, Esperanza;
Ka Wan Li;
Rajan, Nicholas;
De Rubeis, Silvia;
Fiers, Mark;
Smit, August B.;
Achsel, Tilmann;
Bagni, Claudia

Publication type:

Article

Linking Autism Risk Genes to Disruption of Cortical Development.

Published in:

Cells (2073-4409), 2020, v. 9, n. 11, p. 2500, doi. 10.3390/cells9112500

By:

Garcia-Forn, Marta;
Boitnott, Andrea;
Akpinar, Zeynep;
De Rubeis, Silvia

Publication type:

Article

Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS).

Published in:

2020

By:

Mahjani, Behrang;
Dellenvall, Karin;
Grahnat, Anna-Carin Säll;
Karlsson, Gun;
Tuuliainen, Aki;
Reichert, Jennifer;
Mahjani, Christina G.;
Klei, Lambertus;
De Rubeis, Silvia;
Reichenberg, Abraham;
Devlin, Bernie;
Hultman, Christina M.;
Buxbaum, Joseph D.;
Sandin, Sven;
Grice, Dorothy E.

Publication type:

journal article

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

Published in:

Nucleic Acids Research, 2011, v. 39, n. 14, p. 6172, doi. 10.1093/nar/gkr100

By:

Tassone, Flora;
De Rubeis, Silvia;
Carosi, Chiara;
La Fata, Giorgio;
Serpa, Gisele;
Raske, Christopher;
Willemsen, Rob;
Hagerman, Paul J.;
Bagni, Claudia

Publication type:

Article

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 354, doi. 10.1111/cge.14654

By:

Pavinato, Lisa;
Carestiato, Silvia;
Trajkova, Slavica;
Sorasio, Lorena;
Mantovani, Giovanna;
De Sanctis, Luisa;
Kerkhof, Jennifer;
McConkey, Haley;
Rzasa, Jessica;
Todd, Emily;
Balzo, Maria;
Cardaropoli, Simona;
Bruselles, Alessandro;
De Rubeis, Silvia;
Buxbaum, Joseph D.;
Tartaglia, Marco;
Sadikovic, Bekim;
Ferrero, Giovanni Battista;
Brusco, Alfredo

Publication type:

Article

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

Published in:

PLoS Genetics, 2014, v. 10, n. 12, p. 1, doi. 10.1371/journal.pgen.1004729

By:

Ionita-Laza, Iuliana;
Capanu, Marinela;
De Rubeis, Silvia;
McCallum, Kenneth;
Buxbaum, Joseph D.

Publication type:

Article

Integrated Model of <i>De Novo</i> and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes.

Published in:

PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003671

By:

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

Publication type:

Article

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.

Published in:

Genes, 2021, v. 12, n. 3, p. 351, doi. 10.3390/genes12030351

By:

Siper, Paige M.;
Layton, Christina;
Levy, Tess;
Lurie, Stacey;
Benrey, Nurit;
Zweifach, Jessica;
Rowe, Mikaela;
Tang, Lara;
Guillory, Sylvia;
Halpern, Danielle;
Giserman-Kiss, Ivy;
Del Pilar Trelles, Maria;
Foss-Feig, Jennifer H.;
De Rubeis, Silvia;
Tavassoli, Teresa;
Buxbaum, Joseph D.;
Kolevzon, Alexander;
Gonda, Xenia

Publication type:

Article

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

Published in:

Journal of Neurodevelopmental Disorders, 2011, v. 3, n. 3, p. 257, doi. 10.1007/s11689-011-9087-2

By:

De Rubeis, Silvia;
Bagni, Claudia

Publication type:

Article

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

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6064, doi. 10.3390/ijms22116064

By:

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

Publication type:

Article

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406

By:

Biamino, Elisa;
Di Gregorio, Eleonora;
Belligni, Elga Fabia;
Keller, Roberto;
Riberi, Evelise;
Gandione, Marina;
Calcia, Alessandro;
Mancini, Cecilia;
Giorgio, Elisa;
Cavalieri, Simona;
Pappi, Patrizia;
Talarico, Flavia;
Fea, Antonio M.;
De Rubeis, Silvia;
Cirillo Silengo, Margherita;
Ferrero, Giovanni Battista;
Brusco, Alfredo

Publication type:

Article

Molecular basis of the CYFIP2 and NCKAP1 autism‐linked variants in the WAVE regulatory complex.

Published in:

Protein Science: A Publication of the Protein Society, 2025, v. 34, n. 1, p. 1, doi. 10.1002/pro.5238

By:

Xie, Song;
Zuo, Ke;
De Rubeis, Silvia;
Ruggerone, Paolo;
Carloni, Paolo

Publication type:

Article

Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41730-8

By:

Salamon, Iva;
Park, Yongkyu;
Miškić, Terezija;
Kopić, Janja;
Matteson, Paul;
Page, Nicholas F.;
Roque, Alfonso;
McAuliffe, Geoffrey W.;
Favate, John;
Garcia-Forn, Marta;
Shah, Premal;
Judaš, Miloš;
Millonig, James H.;
Kostović, Ivica;
De Rubeis, Silvia;
Hart, Ronald P.;
Krsnik, Željka;
Rasin, Mladen-Roko

Publication type:

Article

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <italic>SHANK3</italic> point mutations.

Published in:

Molecular Autism, 2018, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13229-018-0205-9

By:

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

Publication type:

Article

Prospective investigation of FOXP1 syndrome.

Published in:

Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0172-6

By:

Siper, Paige M.;
De Rubeis, Silvia;
del Pilar Trelles, Maria;
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.

Publication type:

Article

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

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00212

By:

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

Publication type:

Article

DDX3X syndrome: From clinical phenotypes to biological insights.

Published in:

Journal of Neurochemistry, 2024, v. 168, n. 9, p. 2147, doi. 10.1111/jnc.16174

By:

von Mueffling, Alexa;
Garcia‐Forn, Marta;
De Rubeis, Silvia

Publication type:

Article

Identification of rare de novo epigenetic variations in congenital disorders.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04540-x

By:

Joshi, Ricky S.;
Garg, Paras;
Martin-Trujillo, Alejandro;
Patel, Nihir;
Jadhav, Bharati;
Watson, Corey T.;
Gibson, William;
Tessereau, Chloe;
Gelb, Bruce D.;
Sharp, Andrew J.;
Barbosa, Mafalda;
Buxbaum, Joseph D.;
Grice, Dorothy E.;
Soares, Gabriela;
De Rubeis, Silvia;
Reichert, Jennifer;
Chetnik, Kelsey;
Edelmann, Lisa;
Hui Mei;
Lopes, Fatima

Publication type:

Article

Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157

By:

Pavinato, Lisa;
Trajkova, Slavica;
Grosso, Enrico;
Giorgio, Elisa;
Bruselles, Alessandro;
Radio, Francesca Clementina;
Pippucci, Tommaso;
Dimartino, Paola;
Tartaglia, Marco;
Petlichkovski, Aleksandar;
De Rubeis, Silvia;
Buxbaum, Joseph;
Ferrero, Giovanni Battista;
Keller, Roberto;
Brusco, Alfredo

Publication type:

Article

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability.

Published in:

Nature Neuroscience, 2007, v. 10, n. 5, p. 578, doi. 10.1038/nn1893

By:

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

Publication type:

Article

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59680-8

By:

Mossa, Adele;
Dierdorff, Lauren;
Lukin, Jeronimo;
Garcia-Forn, Marta;
Wang, Wei;
Mamashli, Fatemeh;
Park, Yeaji;
Fiorenzani, Chiara;
Akpinar, Zeynep;
Kamps, Janine;
Tatzelt, Jörg;
Wu, Zhuhao;
De Rubeis, Silvia

Publication type:

Article

How rare and common risk variation jointly affect liability for autism spectrum disorder.

Published in:

Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00466-2

By:

Klei, Lambertus;
McClain, Lora Lee;
Mahjani, Behrang;
Panayidou, Klea;
De Rubeis, Silvia;
Grahnat, Anna-Carin Säll;
Karlsson, Gun;
Lu, Yangyi;
Melhem, Nadine;
Xu, Xinyi;
Reichenberg, Abraham;
Sandin, Sven;
Hultman, Christina M.;
Buxbaum, Joseph D.;
Roeder, Kathryn;
Devlin, Bernie

Publication type:

Article

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.

Published in:

Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00465-3

By:

Mahjani, Behrang;
De Rubeis, Silvia;
Gustavsson Mahjani, Christina;
Mulhern, Maureen;
Xu, Xinyi;
Klei, Lambertus;
Satterstrom, F. Kyle;
Fu, Jack;
Talkowski, Michael E.;
Reichenberg, Abraham;
Sandin, Sven;
Hultman, Christina M.;
Grice, Dorothy E.;
Roeder, Kathryn;
Devlin, Bernie;
Buxbaum, Joseph D.

Publication type:

Article

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Published in:

Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00431-z

By:

Tang, Lara;
Levy, Tess;
Guillory, Sylvia;
Halpern, Danielle;
Zweifach, Jessica;
Giserman-Kiss, Ivy;
Foss-Feig, Jennifer H.;
Frank, Yitzchak;
Lozano, Reymundo;
Belani, Puneet;
Layton, Christina;
Lerman, Bonnie;
Frowner, Emanuel;
Breen, Michael S.;
De Rubeis, Silvia;
Kostic, Ana;
Kolevzon, Alexander;
Buxbaum, Joseph D.;
Siper, Paige M.;
Grice, Dorothy E.

Publication type:

Article

Phelan McDermid Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 14, p. 1861, doi. 10.1177/0883073815600872

By:

Harony-Nicolas, Hala;
De Rubeis, Silvia;
Kolevzon, Alexander;
Buxbaum, Joseph D.

Publication type:

Article

Recent Advances in the Genetics of Autism Spectrum Disorder.

Published in:

Current Neurology & Neuroscience Reports, 2015, v. 15, n. 6, p. 1, doi. 10.1007/s11910-015-0553-1

By:

De Rubeis, Silvia;
Buxbaum, Joseph

Publication type:

Article

Synaptic, transcriptional and chromatin genes disrupted in autism.

Published in:

Nature, 2014, v. 515, n. 7526, p. 209, doi. 10.1038/nature13772

By:

De Rubeis, Silvia;
Poultney, Christopher S.;
Kou, Yan;
Fu, Shih-Chen;
Brownfeld, Jessica M.;
Cai, Jinlu;
Aleksic, Branko;
Ozaki, Norio;
Biscaldi, Monica;
Bolton, Patrick F.;
Curran, Sarah R.;
Campbell, Nicholas G.;
Crawford, Emily L.;
Sutcliffe, James S.;
Carracedo, Angel;
Chahrour, Maria H.;
Sean Hill, R.;
Yu, Timothy W.;
Walsh, Christopher A.;
Chiocchetti, Andreas G.

Publication type:

Article

Genetics and genomics of autism spectrum disorder: embracing complexity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R24, doi. 10.1093/hmg/ddv273

By:

De Rubeis, Silvia;
Buxbaum, Joseph D.

Publication type:

Article

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4006, doi. 10.1093/hmg/ddv138

By:

Kozol, Robert A.;
Cukier, Holly N.;
Bing Zou;
Mayo, Vera;
De Rubeis, Silvia;
Cai, Guiqing;
Griswold, Anthony J.;
Whitehead, Patrice L.;
Haines, Jonathan L.;
Gilbert, John R.;
Cuccaro, Michael L.;
Martin, Eden R.;
Baker, James D.;
Buxbaum, Joseph D.;
Pericak-Vance, Margaret A.;
Dallman, Julia E.

Publication type:

Article

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

Published in:

Cerebral Cortex, 2019, v. 29, n. 5, p. 2228, doi. 10.1093/cercor/bhz029

By:

Golden, Carla E M;
Breen, Michael S;
Koro, Lacin;
Sonar, Sankalp;
Niblo, Kristi;
Browne, Andrew;
Burlant, Natalie;
Marino, Daniele Di;
Rubeis, Silvia De;
Baxter, Mark G;
Buxbaum, Joseph D;
Harony-Nicolas, Hala

Publication type:

Article