Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

by Iuliana Ionita-Laza, Marinela Capanu, Silvia De Rubeis, Kenneth McCallum, Joseph D Buxbaum
Published 2014-12-01

<i>KCNK18</i> Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

by Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D’Adamo, Alfredo Brusco
Published 2021-06-01

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

by Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum, Matthew W State, Bernie Devlin, Kathryn Roeder
Published 2013-01-01

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

by Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon
Published 2018-04-01

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

by Annalisa Alfieri, Oksana Sorokina, Annie Adrait, Annie Adrait, Annie Adrait, Costanza Angelini, Isabella Russo, Alessandro Morellato, Michela Matteoli, Michela Matteoli, Elisabetta Menna, Elisabetta Menna, Elisabetta Boeri Erba, Elisabetta Boeri Erba, Elisabetta Boeri Erba, Colin McLean, J. Douglas Armstrong, Ugo Ala, Ugo Ala, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Joseph D. Buxbaum, Alfredo Brusco, Alfredo Brusco, Yohann Couté, Yohann Couté, Yohann Couté, Silvia De Rubeis, Silvia De Rubeis, Emilia Turco, Paola Defilippi
Published 2017-06-01

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

by Lambertus Klei, Lora Lee McClain, Behrang Mahjani, Klea Panayidou, Silvia De Rubeis, Anna-Carin Säll Grahnat, Gun Karlsson, Yangyi Lu, Nadine Melhem, Xinyi Xu, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Joseph D. Buxbaum, Kathryn Roeder, Bernie Devlin
Published 2021-10-01

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

by Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
Published 2021-10-01

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

by Paige M. Siper, Christina Layton, Tess Levy, Stacey Lurie, Nurit Benrey, Jessica Zweifach, Mikaela Rowe, Lara Tang, Sylvia Guillory, Danielle Halpern, Ivy Giserman-Kiss, Maria Del Pilar Trelles, Jennifer H. Foss-Feig, Silvia De Rubeis, Teresa Tavassoli, Joseph D. Buxbaum, Alexander Kolevzon
Published 2021-02-01

Prospective investigation of FOXP1 syndrome

by Paige M. Siper, Silvia De Rubeis, Maria del Pilar Trelles, Allison Durkin, Daniele Di Marino, François Muratet, Yitzchak Frank, Reymundo Lozano, Evan E. Eichler, Morgan Kelly, Jennifer Beighley, Jennifer Gerdts, Arianne S. Wallace, Heather C. Mefford, Raphael A. Bernier, Alexander Kolevzon, Joseph D. Buxbaum
Published 2017-10-01

Prospective and detailed behavioral phenotyping in DDX3X syndrome

by Lara Tang, Tess Levy, Sylvia Guillory, Danielle Halpern, Jessica Zweifach, Ivy Giserman-Kiss, Jennifer H. Foss-Feig, Yitzchak Frank, Reymundo Lozano, Puneet Belani, Christina Layton, Bonnie Lerman, Emanuel Frowner, Michael S. Breen, Silvia De Rubeis, Ana Kostic, Alexander Kolevzon, Joseph D. Buxbaum, Paige M. Siper, Dorothy E. Grice
Published 2021-05-01

Identification of rare de novo epigenetic variations in congenital disorders

by Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Published 2018-05-01

Translational derepression of Elavl4 isoforms at their alternative 5′ UTRs determines neuronal development

by Tatiana Popovitchenko, Yongkyu Park, Nicholas F. Page, Xiaobing Luo, Zeljka Krsnik, Yuan Liu, Iva Salamon, Jessica D. Stephenson, Matthew L. Kraushar, Nicole L. Volk, Sejal M. Patel, H. R. Sagara Wijeratne, Diana Li, Kandarp S. Suthar, Aaron Wach, Miao Sun, Sebastian J. Arnold, Wado Akamatsu, Hideyuki Okano, Luc Paillard, Huaye Zhang, Steven Buyske, Ivica Kostovic, Silvia De Rubeis, Ronald P. Hart, Mladen-Roko Rasin
Published 2020-04-01

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

by Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State
Published 2018-09-01