SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

by SHCHEGLOVITOV, Aleksandr, SHCHEGLOVITOVA, Olesya, DOLMETSCH, Ricardo E, YAZAWA, Masayuki, PORTMANN, Thomas, RUI SHU, SEBASTIANO, Vittorio, KRAWISZ, Anna, FROEHLICH, Wendy, BERNSTEIN, Jonathan A, HALLMAYER, Joachim F
Published in Nature (London)

Assembly of functionally integrated human forebrain spheroids

by Birey, Fikri, Andersen, Jimena, Makinson, Christopher D, Islam, Saiful, Wei, Wu, Huber, Nina, Fan, H Christina, Metzler, Kimberly R Cordes, Panagiotakos, Georgia, Thom, Nicholas, O'Rourke, Nancy A, Steinmetz, Lars M, Bernstein, Jonathan A, Hallmayer, Joachim, Huguenard, John R, Paşca, Sergiu P
Published in Nature (London)

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

by Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Vorstman, Jacob A.S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceição, Inês C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bacchelli, Elena, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Jiménez González, Patricia, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.
Published in American journal of human genetics

Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder

by Parker, Karen J., Garner, Joseph P., Libove, Robin A., Hyde, Shellie A., Hornbeak, Kirsten B., Carson, Dean S., Liao, Chun-Ping, Phillips, Jennifer M., Hallmayer, Joachim F., Hardan, Antonio Y.
Published in Proceedings of the National Academy of Sciences - PNAS

HPA Axis Reactivity: A Mechanism Underlying the Associations Among 5-HTTLPR, Stress, and Depression

by Gotlib, Ian H, Joormann, Jutta, Minor, Kelly L, Hallmayer, Joachim
Published in Biological psychiatry (1969)

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

by Dolmetsch, Ricardo E, Yazawa, Masayuki, Hsueh, Brian, Jia, Xiaolin, Pasca, Anca M, Bernstein, Jonathan A, Hallmayer, Joachim
Published in Nature (London)

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

by Heinzen, Erin L, O'Neill, Adam C, Zhu, Xiaolin, Allen, Andrew S, Bahlo, Melanie, Chelly, Jamel, Chen, Ming Hui, Dobyns, William B, Freytag, Saskia, Guerrini, Renzo, Leventer, Richard J, Poduri, Annapurna, Robertson, Stephen P, Walsh, Christopher A, Zhang, Mengqi
Published in PLoS genetics

Functional impact of global rare copy number variation in autism spectrum disorders

by Gillberg, Christopher, Kolevzon, Alexander, Nelson, Stanley F, Sansom, Katherine, Casallo, Guillermo, Miller, Judith, Brennan, Sean, Leboyer, Marion, Bacchelli, Elena, Delorme, Richard, Fombonne, Eric, Hallmayer, Joachim, Green, Jonathan, Pickles, Andrew, Heron, Elizabeth A, Salt, Jeff, Battaglia, Agatino, Klauck, Sabine M, McDougle, Christopher J, Mahoney, William, Noor, Abdul, Cytrynbaum, Cheryl, Sato, Daisuke, Almeida, Joana, Korvatska, Olena, Dawson, Geraldine, Bierut, Laura J, Coon, Hilary, Rickaby, Jessica, Freitag, Christine M, Roeder, Kathryn, Bader, Gary D, Wijsman, Ellen M, Vincent, John B, Hakonarson, Hakon, Segurado, Ricardo, Paton, Tara, Roge, Bernadette, Ennis, Sean, Kim, Cecilia, Monaco, Anthony P, Paterson, Andrew D, Crossett, Andrew, McGrath, Jane, Carson, Andrew R, Le Couteur, Ann, Cook, Edwin H, Chung, Brian H.Y, Cuccaro, Michael L, Van Engeland, Herman, Conroy, Judith, Holt, Richard, Strawbridge, Christina, Kustanovich, Vlad, Migita, Ohsuke, Stoppioni, Vera, Igliozzi, Roberta, Poustka, Fritz, Stein, Olaf, Posey, David J, Sheffield, Val C, Duque, Frederico, Parrini, Barbara, Berney, Tom, Hus, Vanessa, Baird, Gillian, Duketis, Eftichia, Soorya, Latha, Corsello, Christina, Drmic, Irene, Sousa, Inês, Abrahams, Brett S, Thomson, Susanne, Lajonchere, Clara M, Tsiantis, John, Pinto, Dalila, Green, Andrew, Hughes, Gillian, Mantoulan, Carine, Betancur, Catalina, Volkmar, Fred, Poustka, Annemarie, Shah, Naisha, Bryson, Susan E, Munson, Jeff, Tancredi, Raffaella, Nygren, Gudrun, Wittemeyer, Kerstin, Merikangas, Alison, Oliveira, Guiomar, Farrar, Penny, Maestrini, Elena, Liu, Xiao-Qing, Gallagher, Louise, McConachie, Helen, Zurawiecki, Danielle, Schellenberg, Gerard D, Glessner, Joseph T, Lord, Catherine, Piven, Joseph
Published in Nature (London)

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

by Sun, Yishan, Paşca, Sergiu P, Portmann, Thomas, Goold, Carleton, Worringer, Kathleen A, Guan, Wendy, Chan, Karen C, Gai, Hui, Vogt, Daniel, Chen, Ying-Jiun J, Mao, Rong, Chan, Karrie, Rubenstein, John Lr, Madison, Daniel V, Hallmayer, Joachim, Froehlich-Santino, Wendy M, Bernstein, Jonathan A, Dolmetsch, Ricardo E
Published in eLife

Oxytocin receptor gene polymorphism (rs2254298) interacts with familial risk for psychopathology to predict symptoms of depression and anxiety in adolescent girls

by Thompson, Renee J, Parker, Karen J, Hallmayer, Joachim F, Waugh, Christian E, Gotlib, Ian H
Published in Psychoneuroendocrinology

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

by WINKELMANN, Juliane, LING LIN, POLI, Francesca, GRUBERT, Fabian, WIELAND, Thomas, GRAF, Elisabeth, HALLMAYER, Joachim, STROM, Tim M, MIGNOT, Emmanuel, SCHORMAIR, Barbara, KORNUM, Birgitte R, FARACO, Juliette, PLAZZI, Giuseppe, MELBERG, Atle, CORNELIO, Ferdinando, URBAN, Alexander E, PIZZA, Fabio
Published in Human molecular genetics

Genetic and environmental influences on structural brain measures in twins with autism spectrum disorder

by Hegarty, 2nd, John P, Pegoraro, Luiz F L, Lazzeroni, Laura C, Raman, Mira M, Hallmayer, Joachim F, Monterrey, Julio C, Cleveland, Sue C, Wolke, Olga N, Phillips, Jennifer M, Reiss, Allan L, Hardan, Antonio Y
Published in Molecular psychiatry

ImmunoChip study implicates antigen presentation to T cells in narcolepsy

by Faraco, Juliette, Lin, Ling, Kornum, Birgitte Rahbek, Kenny, Eimear E, Trynka, Gosia, Einen, Mali, Rico, Tom J, Lichtner, Peter, Dauvilliers, Yves, Arnulf, Isabelle, Lecendreux, Michel, Javidi, Sirous, Geisler, Peter, Mayer, Geert, Pizza, Fabio, Poli, Francesca, Plazzi, Giuseppe, Overeem, Sebastiaan, Lammers, Gert Jan, Kemlink, David, Sonka, Karel, Nevsimalova, Sona, Rouleau, Guy, Desautels, Alex, Montplaisir, Jacques, Frauscher, Birgit, Ehrmann, Laura, Högl, Birgit, Jennum, Poul, Bourgin, Patrice, Peraita-Adrados, Rosa, Iranzo, Alex, Bassetti, Claudio, Chen, Wei-Min, Concannon, Patrick, Thompson, Susan D, Damotte, Vincent, Fontaine, Bertrand, Breban, Maxime, Gieger, Christian, Klopp, Norman, Deloukas, Panos, Wijmenga, Cisca, Hallmayer, Joachim, Onengut-Gumuscu, Suna, Rich, Stephen S, Winkelmann, Juliane, Mignot, Emmanuel
Published in PLoS genetics

Genetic and demographic predisposing factors associated with pediatric sleepwalking in the Philadelphia Neurodevelopmental Cohort

by Chiba, Yuhei, Phillips, Owen R., Takenoshita, Shinichi, Ollila, Hanna M., Hallmayer, Joachim F., Nishino, Seiji, Singh, Manpreet K.
Published in Journal of the neurological sciences

Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons

by Zhang, Siming, Zhang, Xianglong, Purmann, Carolin, Ma, Shining, Shrestha, Anima, Davis, Kasey N., Ho, Marcus, Huang, Yiling, Pattni, Reenal, Wong, Wing Hung, Bernstein, Jonathan A., Hallmayer, Joachim, Urban, Alexander E.
Published in Biological psychiatry (1969)

Insulin resistance and hippocampal volume in women at risk for Alzheimer's disease

by Rasgon, Natalie L, Kenna, Heather A, Wroolie, Tonita E, Kelley, Ryan, Silverman, Daniel, Brooks, John, Williams, Katherine E, Powers, Bevin N, Hallmayer, Joachim, Reiss, Allan
Published in Neurobiology of aging

Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic

by Han, Fang, Faraco, Juliette, Dong, Xiao Song, Ollila, Hanna M, Lin, Ling, Li, Jing, An, Pei, Wang, Shan, Jiang, Ke Wei, Gao, Zhan Cheng, Zhao, Long, Yan, Han, Liu, Ya Nan, Li, Qing Hua, Zhang, Xiao Zhe, Hu, Yan, Wang, Jing Yu, Lu, Yun Hui, Lu, Chang Jun, Zhou, Wei, Hallmayer, Joachim, Huang, Yu Shu, Strohl, Kingman P, Pollmächer, Thomas, Mignot, Emmanuel
Published in PLoS genetics

Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

by Hall, Scott S., Riley, Matthew J., Weston, Robyn N., Lepage, Jean-Francois, Hong, David S., Jo, Booil, Hallmayer, Joachim, Reiss, Allan L.
Published in Journal of autism and developmental disorders

Increased activation product of complement 4 protein in plasma of individuals with schizophrenia

by Kalinowski, Agnieszka, Liliental, Joanna, Anker, Lauren A, Linkovski, Omer, Culbertson, Collin, Hall, Jacob N, Pattni, Reenal, Sabatti, Chiara, Noordsy, Douglas, Hallmayer, Joachim F, Mellins, Elizabeth D, Ballon, Jacob S, O'Hara, Ruth, Levinson, Douglas F, Urban, Alexander E
Published in Translational psychiatry

A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder

by Hegarty, John P., Gu, Meng, Spielman, Daniel M., Cleveland, Sue C., Hallmayer, Joachim F., Lazzeroni, Laura C., Raman, Mira M., Frazier, Thomas W., Phillips, Jennifer M., Reiss, Allan L., Hardan, Antonio Y.
Published in Progress in neuro-psychopharmacology & biological psychiatry