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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Published in Nature communications (12.07.2019)
Published in Nature communications (12.07.2019)
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Journal Article
Maternal immune activation in neurodevelopmental disorders
Solek, Cynthia M., Farooqi, Nasr, Verly, Myriam, Lim, Tony K., Ruthazer, Edward S.
Published in Developmental dynamics (01.04.2018)
Published in Developmental dynamics (01.04.2018)
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Journal Article
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim
Published in American journal of human genetics (05.03.2020)
Published in American journal of human genetics (05.03.2020)
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Journal Article
PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders
Bayat, Allan, Iqbal, Sumaiya, Borredy, Kim, Amiel, Jeanne, Zweier, Christiane, Barcia, Guilia, Kraus, Cornelia, Weyhreter, Heike, Bassuk, Alexander G., Chopra, Maya, Rubboli, Guido, Møller, Rikke S.
Published in European journal of human genetics : EJHG (01.08.2021)
Published in European journal of human genetics : EJHG (01.08.2021)
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Journal Article
Practitioner Review: Multilingualism and neurodevelopmental disorders - an overview of recent research and discussion of clinical implications
Uljarević, Mirko, Katsos, Napoleon, Hudry, Kristelle, Gibson, Jenny L.
Published in Journal of child psychology and psychiatry (01.11.2016)
Published in Journal of child psychology and psychiatry (01.11.2016)
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Journal Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya, Fatih, Jawid M., Herman, Isabella, Akay, Gulsen, Du, Haowei, Calame, Daniel G., Ayaz, Akif, Tos, Tulay, Yesil, Gozde, Aydin, Hatip, Geckinli, Bilgen, Elcioglu, Nursel, Candan, Sukru, Sezer, Ozlem, Erdem, Haktan Bagis, Gul, Davut, Demiral, Emine, Elmas, Muhsin, Yesilbas, Osman, Kilic, Betul, Gungor, Serdal, Ceylan, Ahmet C., Bozdogan, Sevcan, Ozalp, Ozge, Cicek, Salih, Aslan, Huseyin, Yalcintepe, Sinem, Topcu, Vehap, Bayram, Yavuz, Grochowski, Christopher M., Jolly, Angad, Dawood, Moez, Duan, Ruizhi, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Marafi, Dana, Akdemir, Zeynep Coban, Karaca, Ender, Carvalho, Claudia M.B., Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Pehlivan, Davut
Published in American journal of human genetics (07.10.2021)
Published in American journal of human genetics (07.10.2021)
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Journal Article
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Published in Frontiers in neuroscience (12.07.2023)
Published in Frontiers in neuroscience (12.07.2023)
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Journal Article
Association of adverse childhood experiences and neurodevelopmental disorders in people with fetal alcohol spectrum disorders (FASD) and non-FASD controls
Kambeitz, Cassondra, Klug, Marilyn G., Greenmyer, Jacob, Popova, Svetlana, Burd, Larry
Published in BMC pediatrics (16.12.2019)
Published in BMC pediatrics (16.12.2019)
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Journal Article
Neurodevelopmental disorders among Spanish school-age children: prevalence and sociodemographic correlates
Bosch, Rosa, Pagerols, Mireia, Rivas, Cristina, Sixto, Laura, Bricollé, Laura, Español-Martín, Gemma, Prat, Raquel, Ramos-Quiroga, Josep A., Casas, Miquel
Published in Psychological medicine (01.10.2022)
Published in Psychological medicine (01.10.2022)
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Journal Article
Estrogen Signaling as a Therapeutic Target in Neurodevelopmental Disorders
Crider, Amanda, Pillai, Anilkumar
Published in The Journal of pharmacology and experimental therapeutics (01.01.2017)
Published in The Journal of pharmacology and experimental therapeutics (01.01.2017)
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Journal Article
Social Cognition in Neurodevelopmental Disorders and Epilepsy
Pastorino, Grazia Maria Giovanna, Operto, Francesca Felicia, Padovano, Chiara, Vivenzio, Valentina, Scuoppo, Chiara, Pastorino, Nazareno, Roccella, Michele, Vetri, Luigi, Carotenuto, Marco, Coppola, Giangennaro
Published in Frontiers in neurology (14.04.2021)
Published in Frontiers in neurology (14.04.2021)
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Journal Article
Understanding autism and other neurodevelopmental disorders through experimental translational neurobehavioral models
Homberg, Judith R., Kyzar, Evan J., Nguyen, Michael, Norton, William H., Pittman, Julian, Poudel, Manoj K., Gaikwad, Siddharth, Nakamura, Shun, Koshiba, Mamiko, Yamanouchi, Hideo, Scattoni, Maria Luisa, Ullman, Jeremy F.P., Diamond, David M., Kaluyeva, Aleksandra A., Parker, Matthew O., Klimenko, Victor M., Apryatin, Sergey A., Brown, Richard E., Song, Cai, Gainetdinov, Raul R., Gottesman, Irving I., Kalueff, Allan V.
Published in Neuroscience and biobehavioral reviews (01.06.2016)
Published in Neuroscience and biobehavioral reviews (01.06.2016)
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Journal Article
A large data resource of genomic copy number variation across neurodevelopmental disorders
Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
Published in Npj genomic medicine (07.10.2019)
Published in Npj genomic medicine (07.10.2019)
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Journal Article
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, Jordy, Schot, Rachel, Bongaerts, Michiel, de Valk, Walter G., van Veghel-Plandsoen, Monique M., Monfils, Kathryn, Douben, Hannie, Elfferich, Peter, Kasteleijn, Esmee, van Unen, Leontine M.A., Geeven, Geert, Saris, Jasper J., van Ierland, Yvette, Verheijen, Frans W., van der Sterre, Marianne L.T., Sadeghi Niaraki, Farah, Smits, Daphne J., Huidekoper, Hidde H., Williams, Monique, Wilke, Martina, Verhoeven, Virginie J.M., Joosten, Marieke, Kievit, Anneke J.A., van de Laar, Ingrid M.B.H., Hoefsloot, Lies H., Hoogeveen-Westerveld, Marianne, Nellist, Mark, Mancini, Grazia M.S., van Ham, Tjakko J.
Published in American journal of human genetics (02.02.2023)
Published in American journal of human genetics (02.02.2023)
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Journal Article