المؤلفون: Moch, Johanna, Radtke, Maximilian, Liehr, Thomas, Eggermann, Thomas, Gilissen, Christian, Pfundt, Rolph, Astuti, Galuh, Hentschel, Julia, Schumann, Isabell^{Aff1, IDs0043902402687w_cor9}

المصدر: Human Genetics. 143(8):955-964

المؤلفون: Vos, Niels^{Aff1, Aff2}, Haghshenas, Sadegheh, van der Laan, Liselot^{Aff1, Aff2}, Russel, Perle K. M.^{Aff1, Aff2}, Rooney, Kathleen^{Aff3, Aff4}, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley^{Aff3, Aff4}, Maas, Saskia M.^{Aff1, Aff2}, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W.^{Aff1, Aff2}, van Hagen, Johanna M.^{Aff1, Aff2}, Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis^{Aff1, Aff2}, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio^{Aff9, Aff10}, Thauvin-Robinet, Christel^{Aff9, Aff10, Aff11}, Faivre, Laurence^{Aff9, Aff12}, Nambot, Sophie^{Aff9, Aff10, Aff12}, Garde, Aurore^{Aff9, Aff11}, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe^{Aff20, Aff21}, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin^{Aff24, Aff25}, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo^{Aff29, Aff30}, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro^{Aff34, Aff35}, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J.^{Aff37, Aff38}, Jansen, Sandra^{Aff1, Aff2}, Donker-Kaat, Laura, Duijkers, Floor A. M.^{Aff1, Aff2}, Stuurman, Kyra E., Mannens, Marcel M. A. M.^{Aff1, Aff2}, Alders, Mariëlle^{Aff1, Aff2}, Henneman, Peter^{Aff1, Aff2}, White, Susan M.^{Aff39, Aff40}, Sadikovic, Bekim^{Aff3, Aff4, IDs0043902402679w_cor59}, van Haelst, Mieke M.^{Aff1, Aff2, Aff41, Aff42, IDs0043902402679w_cor60}

المصدر: Human Genetics. 143(6):761-773

المؤلفون: Bassani, Sissy^{Aff1, Aff36}, Chrast, Jacqueline, Ambrosini, Giovanna^{Aff2, Aff3}, Voisin, Norine^{Aff1, Aff40}, Schütz, Frédéric, Brusco, Alfredo^{Aff5, Aff6}, Sirchia, Fabio^{Aff5, Aff6, Aff37, Aff38}, Turban, Lydia, Schubert, Susanna, Abou Jamra, Rami, Schlump, Jan-Ulrich, DeMille, Desiree, Bayrak-Toydemir, Pinar, Nelson, Gary Rex, Wong, Kristen Nicole, Duncan, Laura^{Aff11, Aff39}, Mosera, Mackenzie, Gilissen, Christian, Vissers, Lisenka E. L. M., Pfundt, Rolph, Kersseboom, Rogier, Yttervik, Hilde, Hansen, Geir Åsmund Myge, Smeland, Marie Falkenberg, Butler, Kameryn M., Lyons, Michael J., Carvalho, Claudia M. B.^{Aff17, Aff18}, Zhang, Chaofan, Lupski, James R.^{Aff18, Aff19, Aff20, Aff21}, Potocki, Lorraine^{Aff18, Aff21}, Flores-Gallegos, Leticia, Morales-Toquero, Rodrigo, Petit, Florence, Yalcin, Binnaz, Tuttle, Annabelle, Elloumi, Houda Zghal, McCormick, Lane, Kukolich, Mary, Klaas, Oliver, Horvath, Judit, Scala, Marcello^{Aff28, Aff29}, Iacomino, Michele, Operto, Francesca, Zara, Federico^{Aff28, Aff29}, Writzl, Karin^{Aff31, Aff32}, Maver, Aleš, Haanpää, Maria K., Pohjola, Pia, Arikka, Harri, Kievit, Anneke J. A., Calandrini, Camilla, Iseli, Christian^{Aff2, Aff3}, Guex, Nicolas^{Aff2, Aff3}, Reymond, Alexandre^{Aff1, IDs1307302401339y_cor54}

المصدر: Genome Medicine. 16(1)

المؤلفون: Werren, Elizabeth A.^{Aff1, Aff2}, LaForce, Geneva R., Srivastava, Anshika^{Aff1, Aff4}, Perillo, Delia R., Li, Shaokun, Johnson, Katherine, Baris, Safa, Berger, Brandon, Regan, Samantha L., Pfennig, Christian D., de Munnik, Sonja, Pfundt, Rolph, Hebbar, Malavika, Jimenez-Heredia, Raúl, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, E. J., Louie, Raymond J., Lebel, Robert Roger, Le, Thuy-Linh, Amiel, Jeanne^{Aff12, Aff13}, Gordon, Christopher T., Boztug, Kaan^{Aff8, Aff9, Aff14, Aff15}, Girisha, Katta M., Shukla, Anju, Bielas, Stephanie L.^{Aff1, Aff17, IDs4146702445948y_cor29}, Schaffer, Ashleigh E.^{Aff3, IDs4146702445948y_cor30}

المصدر: Nature Communications. 15(1)

المؤلفون: Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, Kalscheuer, Vera

المصدر: Molecular Psychiatry. 28(2)

مصطلحات موضوعية: Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6039092w
https://escholarship.org/content/qt6039092w/qt6039092w.pdf

المؤلفون: Rots, Dmitrijs, Bouman, Arianne, Yamada, Ayumi, Levy, Michael, Dingemans, Alexander J.M., de Vries, Bert B.A., Ruiterkamp-Versteeg, Martina, de Leeuw, Nicole, Ockeloen, Charlotte W., Pfundt, Rolph, de Boer, Elke, Kummeling, Joost, van Bon, Bregje, van Bokhoven, Hans, Kasri, Nael Nadif, Venselaar, Hanka, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Kuechler, Alma, Elffers, Bart, van Beeck Calkoen, Rixje, Hofman, Susanna, Smith, Audrey, Valenzuela, Maria Irene, Srivastava, Siddharth, Frazier, Zoe, Maystadt, Isabelle, Piscopo, Carmelo, Merla, Giuseppe, Balasubramanian, Meena, Santen, Gijs W.E., Metcalfe, Kay, Park, Soo-Mi, Pasquier, Laurent, Banka, Siddharth, Donnai, Dian, Weisberg, Daniel, Strobl-Wildemann, Gertrud, Wagemans, Annemieke, Vreeburg, Maaike, Baralle, Diana, Foulds, Nicola, Scurr, Ingrid, Brunetti-Pierri, Nicola, van Hagen, Johanna M., Bijlsma, Emilia K., Hakonen, Anna H., Courage, Carolina, Genevieve, David, Pinson, Lucile, Forzano, Francesca, Deshpande, Charu, Kluskens, Maria L., Welling, Lindsey, Plomp, Astrid S., Vanhoutte, Els K., Kalsner, Louisa, Hol, Janna A., Putoux, Audrey, Lazier, Johanna, Vasudevan, Pradeep, Ames, Elizabeth, O'Shea, Jessica, Lederer, Damien, Fleischer, Julie, O'Connor, Mary, Pauly, Melissa, Vasileiou, Georgia, Reis, André, Kiraly-Borri, Catherine, Bouman, Arjan, Barnett, Chris, Nezarati, Marjan, Borch, Lauren, Beunders, Gea, Özcan, Kübra, Miot, Stéphanie, Volker-Touw, Catharina M.L., van Gassen, Koen L.I., Cappuccio, Gerarda, Janssens, Katrien, Mor, Nofar, Shomer, Inna, Dominissini, Dan, Tedder, Matthew L., Muir, Alison M., Sadikovic, Bekim, Brunner, Han G., Vissers, Lisenka E.L.M., Shinkai, Yoichi, Kleefstra, Tjitske

المصدر: In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625

المؤلفون: Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth

المصدر: In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642

المؤلفون: Dingemans, Alexander J. M.^{Aff1, Aff2}, Hinne, Max, Truijen, Kim M. G., Goltstein, Lia, van Reeuwijk, Jeroen, de Leeuw, Nicole, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., den Hoed, Joery, de Boer, Elke, Coenen-van der Spek, Jet, Jansen, Sandra, van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E.^{Aff6, Aff7}, Van Esch, Hilde, Lyon, Gholson J.^{Aff9, Aff10}, Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, van Gerven, Marcel A. J., Vissers, Lisenka E. L. M.^{Aff1, IDs4158802301469w_cor32}, de Vries, Bert B. A.^{Aff1, IDs4158802301469w_cor33}

المصدر: Nature Genetics. 55(9):1598-1607

المؤلفون: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan

المصدر: In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221

المؤلفون: Steyaert, Wouter^{Aff1, Aff2}, Haer-Wigman, Lonneke, Pfundt, Rolph, Hellebrekers, Debby, Steehouwer, Marloes, Hampstead, Juliet, de Boer, Elke^{Aff1, Aff4}, Stegmann, Alexander, Yntema, Helger, Kamsteeg, Erik-Jan, Brunner, Han^{Aff1, Aff3}, Hoischen, Alexander^{Aff1, Aff2, Aff5}, Gilissen, Christian^{Aff1, Aff2, IDs41467023425319_cor13}

المصدر: Nature Communications. 14(1)