mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review by Gordo, G., Tenorio, J., Arias, P., Santos‐Simarro, F., García‐Miñaur, S., Moreno, J.C., Nevado, J., Vallespin, E., Rodriguez‐Laguna, L., de Mena, R., Dapia, I., Palomares‐Bralo, M., del Pozo, Á., Ibañez, K., Silla, J.C., Barroso, E., Ruiz‐Pérez, V.L., Martinez‐Glez, V., Lapunzina, P.

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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants by Santos‐Simarro, F., Vallespin, E., Pozo, A., Ibañez, K., Silla, J.C., Fernandez, L., Nevado, J., González‐Pecellín, H., Montaño, V.E.F., Martin, R., Alba Valdivia, L.I., García‐Miñaúr, S., Lapunzina, P., Palomares‐Bralo, M.

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Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism by Rodríguez, F., Vallejos, C., Giraudo, F., Unanue, N., Hernández, M. I., Godoy, P., Célis, S., Martín‐Arenas, R., Palomares‐Bralo, M., Heath, K. E., López, M. T., Cassorla, F.

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Fenotipo clínico de una paciente con deleción de FOXP1 by Blanco Sánchez, T, Duat Rodríguez, A, Cantarín Extremera, V, Lapunzina, P, Palomares Bralo, M, Nevado Blanco, J

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MAGEL2‐related disorders: A study and case series by Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.

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Clinical phenotype of a patient with FOXP1 deletion by Blanco Sánchez, T, Duat Rodríguez, A, Cantarín Extremera, V, Lapunzina, P, Palomares Bralo, M, Nevado Blanco, J

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Holt-Oram syndrome: characterization of a novel mutation by Fernández García-Moya, L, Lapunzina Badía, P, Delicado Navarro, A, Sharif, A, Cross, G, Mori Alvarez, Ma A, de Torres Perezhidalgo, M L, Palomares Bralo, M, García Sánchez, P, García-Guereta Silva, L, López Pajares, I

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Síndrome de Holt-Oram: caracterización de una nueva mutación by Fernández García-Moya, L., Lapunzina Badía, P., Delicado Navarro, A., Sharif, A., Cross, G., Mori Álvarez, M.ªA., de Torres Perezhidalgo, M.ªL., Palomares Bralo, M., García Sánchez, P., García-Guereta Silva, L., López Pajares, I.

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Clinical phenotype of a patient with FOXP1 deletion by Blanco Sánchez, T, Duat Rodríguez, A, Cantarín Extremera, V, Lapunzina, P, Palomares Bralo, M, Nevado Blanco, J

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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature by Siccha, Sofía M., Cueto, Anna María, Parrón‐Pajares, Manuel, González‐Morán, Gaspar, Pacio‐Miguez, Marta, Del Pozo, Ángela, Solís, Mario, Rodriguez‐Jimenez, Carmen, Caino, Silvia, Fano, Virginia, Heath, Karen E., García‐Miñaúr, Sixto, Palomares‐Bralo, María, Santos‐Simarro, Fernando

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature by Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals by Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype by Santos-Simarro, Fernando, Pacio, Marta, Cueto-González, Anna María, Mansilla, Elena, Valenzuela-Palafoll, María Irene, López-Grondona, Fermina, Lledín, María Dolores, Schuffelmann, Cristina, del Pozo, Ángela, Solis, Mario, Vallcorba, Patricia, Lapunzina, Pablo, Menéndez Suso, Juan José, Siccha, Sofia M., Montejo, Juan Manuel, Mena, Rocío, Jiménez-Rodríguez, Carmen, García-Miñaúr, Sixto, Palomares-Bralo, María

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome by Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants by van der Laan, Liselot, Lauffer, Peter, Rooney, Kathleen, Silva, Ananília, Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Trajkova, Slavica, Huisman, Sylvia A., Bijlsma, Emilia K., Kleefstra, Tjitske, van Bon, Bregje W., Baysal, Özlem, Zweier, Christiane, Palomares-Bralo, María, Fischer, Jan, Szakszon, Katalin, Faivre, Laurence, Piton, Amélie, Mesman, Simone, Hochstenbach, Ron, Elting, Mariet W., van Hagen, Johanna M., Plomp, Astrid S., Mannens, Marcel M.A.M., Alders, Mariëlle, van Haelst, Mieke M., Ferrero, Giovanni B., Brusco, Alfredo, Henneman, Peter, Sweetser, David A., Sadikovic, Bekim, Vitobello, Antonio, Menke, Leonie 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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De novo missense variants in FBXO11 alter its protein expression and subcellular localization by Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane

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Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples by Vallespín, Elena, Palomares Bralo, María, Mori, M. Ángeles, Martín, Rubén, García-Miñaúr, Sixto, Fernández, Luis, de Torres, M. Luisa, García-Santiago, Fe, Mansilla, Elena, Santos, Fernando, M-Montaño, Victoria E., Crespo, M. Carmen, Martín, Sol, Martínez-Glez, Victor, Delicado, Alicia, Lapunzina, Pablo, Nevado, Julián

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