Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits
Peñagarikano, Olga, Abrahams, Brett S., Herman, Edward I., Winden, Kellen D., Gdalyahu, Amos, Dong, Hongmei, Sonnenblick, Lisa I., Gruver, Robin, Almajano, Joel, Bragin, Anatol, Golshani, Peyman, Trachtenberg, Joshua T., Peles, Elior, Geschwind, Daniel H.
Published in Cell (30.09.2011)
Published in Cell (30.09.2011)
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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Abrahams, Brett S, Arking, Dan E, Campbell, Daniel B, Mefford, Heather C, Morrow, Eric M, Weiss, Lauren A, Menashe, Idan, Wadkins, Tim, Banerjee-Basu, Sharmila, Packer, Alan
Published in Molecular autism (03.10.2013)
Published in Molecular autism (03.10.2013)
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A Functional Genetic Link between Distinct Developmental Language Disorders
Vernes, Sonja C, Newbury, Dianne F, Abrahams, Brett S, Winchester, Laura, Nicod, Jérôme, Groszer, Matthias, Alarcón, Maricela, Oliver, Peter L, Davies, Kay E, Geschwind, Daniel H, Monaco, Anthony P, Fisher, Simon E
Published in The New England journal of medicine (27.11.2008)
Published in The New England journal of medicine (27.11.2008)
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Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder
Berko, Esther R, Suzuki, Masako, Beren, Faygel, Lemetre, Christophe, Alaimo, Christine M, Calder, R Brent, Ballaban-Gil, Karen, Gounder, Batya, Kampf, Kaylee, Kirschen, Jill, Maqbool, Shahina B, Momin, Zeineen, Reynolds, David M, Russo, Natalie, Shulman, Lisa, Stasiek, Edyta, Tozour, Jessica, Valicenti-McDermott, Maria, Wang, Shenglong, Abrahams, Brett S, Hargitai, Joseph, Inbar, Dov, Zhang, Zhengdong, Buxbaum, Joseph D, Molholm, Sophie, Foxe, John J, Marion, Robert W, Auton, Adam, Greally, John M
Published in PLoS genetics (01.05.2014)
Published in PLoS genetics (01.05.2014)
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Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome
Cogram, Patricia, Deacon, Robert M J, Warner-Schmidt, Jennifer L, von Schimmelmann, Melanie J, Abrahams, Brett S, During, Matthew J
Published in Frontiers in behavioral neuroscience (25.06.2019)
Published in Frontiers in behavioral neuroscience (25.06.2019)
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A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus
Woo, Young Jae, Wang, Tao, Guadalupe, Tulio, Nebel, Rebecca A, Vino, Arianna, Del Bene, Victor A, Molholm, Sophie, Ross, Lars A, Zwiers, Marcel P, Fisher, Simon E, Foxe, John J, Abrahams, Brett S
Published in PloS one (28.06.2016)
Published in PloS one (28.06.2016)
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Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds
Panaitof, S. Carmen, Abrahams, Brett S., Dong, Hongmei, Geschwind, Daniel H., White, Stephanie A.
Published in Journal of comparative neurology (1911) (01.06.2010)
Published in Journal of comparative neurology (1911) (01.06.2010)
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Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
Kanellopoulos, Alexandros K., Mariano, Vittoria, Spinazzi, Marco, Woo, Young Jae, McLean, Colin, Pech, Ulrike, Li, Ka Wan, Armstrong, J. Douglas, Giangrande, Angela, Callaerts, Patrick, Smit, August B., Abrahams, Brett S., Fiala, Andre, Achsel, Tilmann, Bagni, Claudia
Published in Cell (19.03.2020)
Published in Cell (19.03.2020)
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Soticlestat, a novel cholesterol 24‐hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice
Hawkins, Nicole A., Jurado, Manuel, Thaxton, Tyler T., Duarte, Samantha E., Barse, Levi, Tatsukawa, Tetsuya, Yamakawa, Kazuhiro, Nishi, Toshiya, Kondo, Shinichi, Miyamoto, Maki, Abrahams, Brett S., During, Matthew J., Kearney, Jennifer A.
Published in Epilepsia (Copenhagen) (01.11.2021)
Published in Epilepsia (Copenhagen) (01.11.2021)
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Journal Article
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
Alarcón, Maricela, Abrahams, Brett S., Stone, Jennifer L., Duvall, Jacqueline A., Perederiy, Julia V., Bomar, Jamee M., Sebat, Jonathan, Wigler, Michael, Martin, Christa L., Ledbetter, David H., Nelson, Stanley F., Cantor, Rita M., Geschwind, Daniel H.
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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Journal Article
Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2
Scott-Van Zeeland, Ashley A, Abrahams, Brett S, Alvarez-Retuerto, Ana I, Sonnenblick, Lisa I, Rudie, Jeffrey D, Ghahremani, Dara, Mumford, Jeanette A, Poldrack, Russell A, Dapretto, Mirella, Geschwind, Daniel H, Bookheimer, Susan Y
Published in Science translational medicine (03.11.2010)
Published in Science translational medicine (03.11.2010)
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Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage
Woo, Young Jae, Kanellopoulos, Alexandros K., Hemati, Parisa, Kirschen, Jill, Nebel, Rebecca A., Wang, Tao, Bagni, Claudia, Abrahams, Brett S.
Published in Biological psychiatry (1969) (15.08.2019)
Published in Biological psychiatry (1969) (15.08.2019)
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Journal Article
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Morgan, Thomas M., Chawarska, Katarzyna, Klin, Ami, Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Tanriover, Gamze, Abrahams, Brett S., Duvall, Jackie A., Robbins, Elissa M., Geschwind, Daniel H., Biederer, Thomas, Gunel, Murat, Lifton, Richard P., State, Matthew W.
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors
Dougherty, Joseph D, Maloney, Susan E, Wozniak, David F, Rieger, Michael A, Sonnenblick, Lisa, Coppola, Giovanni, Mahieu, Nathaniel G, Zhang, Juliet, Cai, Jinlu, Patti, Gary J, Abrahams, Brett S, Geschwind, Daniel H, Heintz, Nathaniel
Published in The Journal of neuroscience (13.02.2013)
Published in The Journal of neuroscience (13.02.2013)
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Journal Article
Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration
Ross, Lars A., Del Bene, Victor A., Molholm, Sophie, Woo, Young Jae, Andrade, Gizely N., Abrahams, Brett S., Foxe, John J.
Published in Brain and language (01.11.2017)
Published in Brain and language (01.11.2017)
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Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation
FALIVELLI, Giulia, DE JACO, Antonella, LIETTA FAVALORO, Flores, KIM, Hyuck, WILSON, Jennifer, DUBI, Noga, ELLISMAN, Mark H, ABRAHAMS, Brett S, TAYLOR, Palmer, COMOLETTI, Davide
Published in Human molecular genetics (01.11.2012)
Published in Human molecular genetics (01.11.2012)
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