FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4.

por Yuji Kajiwara, Afia Akram, Pavel Katsel, Vahram Haroutunian, James Schmeidler, Gary Beecham, Jonathan L Haines, Margaret A Pericak-Vance, Joseph D Buxbaum
Publicado 2009

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

por Tan-Hoang Nguyen, Amanda Dobbyn, Ruth C. Brown, Brien P. Riley, Joseph D. Buxbaum, Dalila Pinto, Shaun M. Purcell, Patrick F. Sullivan, Xin He, Eli A. Stahl
Publicado 2020

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

por Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber
Publicado 2013

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

por Siddharth Srivastava, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, on behalf of Developmental Synaptopathies Consortium
Publicado 2021

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

por Sylvia B. Guillory, Victoria Z. Baskett, Hannah E. Grosman, Christopher S. McLaughlin, Emily L. Isenstein, Emma Wilkinson, Jordana Weissman, Bari Britvan, M. Pilar Trelles, Danielle B. Halpern, Joseph D. Buxbaum, Paige M. Siper, A. Ting Wang, Alexander Kolevzon, Jennifer H. Foss-Feig
Publicado 2021

Identification of rare de novo epigenetic variations in congenital disorders

por 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
Publicado 2018

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

por Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield, Cecilia Kim, Nicole B Gidaya, Ingrid Lindquist, Ted Hutman, Marian Sigman, Vlad Kustanovich, Clara M Lajonchere, Andrew Singleton, Junhyong Kim, Thomas H Wassink, William M McMahon, Thomas Owley, John A Sweeney, Hilary Coon, John I Nurnberger, Mingyao Li, Rita M Cantor, Nancy J Minshew, James S Sutcliffe, Edwin H Cook, Geraldine Dawson, Joseph D Buxbaum, Struan F A Grant, Gerard D Schellenberg, Daniel H Geschwind, Hakon Hakonarson
Publicado 2009

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.

por Gary W Beecham, Kara Hamilton, Adam C Naj, Eden R Martin, Matt Huentelman, Amanda J Myers, Jason J Corneveaux, John Hardy, Jean-Paul Vonsattel, Steven G Younkin, David A Bennett, Philip L De Jager, Eric B Larson, Paul K Crane, M Ilyas Kamboh, Julia K Kofler, Deborah C Mash, Linda Duque, John R Gilbert, Harry Gwirtsman, Joseph D Buxbaum, Patricia Kramer, Dennis W Dickson, Lindsay A Farrer, Matthew P Frosch, Bernardino Ghetti, Jonathan L Haines, Bradley T Hyman, Walter A Kukull, Richard P Mayeux, Margaret A Pericak-Vance, Julie A Schneider, John Q Trojanowski, Eric M Reiman, Alzheimer's Disease Genetics Consortium (ADGC), Gerard D Schellenberg, Thomas J Montine
Publicado 2014

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

por Eric M. Reiman, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz, Matthew J. Huentelman, Thomas G. Beach, Richard J. Caselli, Yinghua Chen, Yi Su, Amanda J. Myers, John Hardy, Jean Paul Vonsattel, Steven G. Younkin, David A. Bennett, Philip L. De Jager, Eric B. Larson, Paul K. Crane, C. Dirk Keene, M. Ilyas Kamboh, Julia K. Kofler, Linda Duque, John R. Gilbert, Harry E. Gwirtsman, Joseph D. Buxbaum, Dennis W. Dickson, Matthew P. Frosch, Bernardino F. Ghetti, Kathryn L. Lunetta, Li-San Wang, Bradley T. Hyman, Walter A. Kukull, Tatiana Foroud, Jonathan L. Haines, Richard P. Mayeux, Margaret A. Pericak-Vance, Julie A. Schneider, John Q. Trojanowski, Lindsay A. Farrer, Gerard D. Schellenberg, Gary W. Beecham, Thomas J. Montine, Gyungah R. Jun, The Alzheimer’s Disease Genetics Consortium
Publicado 2020