Identification of primary copy number variations reveal enrichment of Calcium, and MAPK pathways sensitizing secondary sites for autism

by Swati Agarwala, Avinash M. Veerappa, Nallur B. Ramachandra
Published 2020-12-01

Effects of a social stimulus on gene expression in a mouse model of fragile X syndrome

by Tiffany D. Rogers, Allison M. J. Anacker, Travis M. Kerr, C. Gunnar Forsberg, Jing Wang, Bing Zhang, Jeremy Veenstra-VanderWeele
Published 2017-06-01

Role of CNTNAP2 in autism manifestation outlines the regulation of signaling between neurons at the synapse

by Swati Agarwala, Nallur B. Ramachandra
Published 2021-03-01

Improving the measurement of alexithymia in autistic adults: a psychometric investigation and refinement of the twenty-item Toronto Alexithymia Scale

by Zachary J. Williams, Katherine O. Gotham
Published 2021-03-01

Improving the measurement of alexithymia in autistic adults: a psychometric investigation of the 20-item Toronto Alexithymia Scale and generation of a general alexithymia factor sc...

by Zachary J. Williams, Katherine O. Gotham
Published 2021-08-01

16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development

by Julien G Roth, Kristin L Muench, Aditya Asokan, Victoria M Mallett, Hui Gai, Yogendra Verma, Stephen Weber, Carol Charlton, Jonas L Fowler, Kyle M Loh, Ricardo E Dolmetsch, Theo D Palmer
Published 2020-11-01

Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegans

by Emma Watson, Viridiana Olin-Sandoval, Michael J Hoy, Chi-Hua Li, Timo Louisse, Victoria Yao, Akihiro Mori, Amy D Holdorf, Olga G Troyanskaya, Markus Ralser, Albertha JM Walhout
Published 2016-07-01

Arbaclofen in fragile X syndrome: results of phase 3 trials

by Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E. Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F. Bear, Randall L. Carpenter
Published 2017-06-01

The psychiatric phenotypes of 1q21 distal deletion and duplication

by Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree
Published 2021-02-01

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

by Gustavo Glusman, Peter W. Rose, Andreas Prlić, Jennifer Dougherty, José M. Duarte, Andrew S. Hoffman, Geoffrey J. Barton, Emøke Bendixen, Timothy Bergquist, Christian Bock, Elizabeth Brunk, Marija Buljan, Stephen K. Burley, Binghuang Cai, Hannah Carter, JianJiong Gao, Adam Godzik, Michael Heuer, Michael Hicks, Thomas Hrabe, Rachel Karchin, Julia Koehler Leman, Lydie Lane, David L. Masica, Sean D. Mooney, John Moult, Gilbert S. Omenn, Frances Pearl, Vikas Pejaver, Sheila M. Reynolds, Ariel Rokem, Torsten Schwede, Sicheng Song, Hagen Tilgner, Yana Valasatava, Yang Zhang, Eric W. Deutsch
Published 2017-12-01

Privacy, Governance and Public Acceptability in Population Data Linkage for Research

by Christine M O’Keefe
Published 2017-04-01