Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes by Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.

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Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome by van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L, Vissers, Lisenka E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J V, Wieczorek, Dagmar, Bramswig, Nuria C, Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter

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STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG by Houtman, Simon J, Lammertse, Hanna C A, van Berkel, Annemiek A, Balagura, Ganna, Gardella, Elena, Ramautar, Jennifer R, Reale, Chiara, Møller, Rikke S, Zara, Federico, Striano, Pasquale, Misra-Isrie, Mala, van Haelst, Mieke M, Engelen, Marc, van Zuijen, Titia L, Mansvelder, Huibert D, Verhage, Matthijs, Bruining, Hilgo, Linkenkaer-Hansen, Klaus

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Early mortality in STXBP1-related disorders by Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E, Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Rubboli, Guido, Møller, Rikke S, Gardella, Elena

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De novo SPAST mutations may cause a complex SPG4 phenotype by Schieving, Jolanda H, de Bot, Susanne T, van de Pol, Laura A, Wolf, Nicole I, Brilstra, Eva H, Frints, Suzanna G, van Gaalen, Judith, Misra-Isrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corien C, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P, Willemsen, Michèl A

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant by Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP 1 -Related Disorder Patient Neurons by van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, van Hasselt, Peter Marin, Engelen, Marc, van Haelst, Mieke, Smit, August Benjamin, van der Sluis, Sophie, Toonen, Ruud Franciscus, Verhage, Matthijs

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Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons by Van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, Van Hasselt, Peter Marin, Van Engelen, Marc, Van Haelst, Mieke, Smit, August Bernard, Van der Sluis, Sophie, Toonen, Ruud Ferdinand, Verhage, Matthijs

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