1. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
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Radio, Francesca Clementina, Pang, Kaifang, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, Dentici, Maria Lisa, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Sanchez-Lara, Pedro A., Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Cross, Laura, Zhou, Dihong, Hartley, Taila, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Macke, Erica L., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Amor, David J., Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Ravid, Sarit, Weiss, Karin, Castle, Alison M.R., Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Kingston, Helen M., Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Hagelstrom, R. Tanner, Zanus, Caterina, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Jr., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Priolo, Manuela, Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Scott, Daryl A., Holder, Jimmy Lloyd, Jr., and Tartaglia, Marco
- Published
- 2021
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