Further delineation of putative ACTB loss‐of‐function variants: A 4‐patient series von Baumann, Matthias, Beaver, Erin M., Palomares‐Bralo, María, Santos‐Simarro, Fernando, Holzer, Peter, Povysil, Gundula, Müller, Thomas, Valovka, Taras, Janecke, Andreas R.

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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial ph... von Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María

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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 von 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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MAGEL2‐related disorders: A study and case series von 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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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses von Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva‐Lena, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

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Molecular and histologic insights on early onset cardiomyopathy in Danon disease females von Fernández, Luis, Casamayor Polo, Laura, Bravo García‐Morato, María, Enguita Valls, Ana Belén, Ruiz‐Bravo, Elena, Muñoz‐Cabello, Patricia, Ibáñez, Kristina, Rodríguez‐Laguna, Lara, Martín‐Arenas, Rubén, Ortega, Marta, Palomares‐Bralo, María, Pozo, Ángela, García‐Guereta, Luis, García‐Miñaúr, Sixto, Lapunzina, Pablo, Vallespín, Elena

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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability von Pacio Miguez, Marta, Santos‐Simarro, Fernando, García‐Miñaúr, Sixto, Velázquez Fragua, Ramón, Pozo, Ángela, Solís, Mario, Jiménez Rodríguez, Carmen, Rufo‐Rabadán, Virginia, Fernandez, Victoria Eugenia, Rueda, Inmaculada, Gomez del Pozo, Maria Victoria, Gallego, Natividad, Lapunzina, Pablo, Palomares‐Bralo, María

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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature von Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame

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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders von O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.

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New microdeletion and microduplication syndromes: A comprehensive review von Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo

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Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor von Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, Del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N, Martínez-Glez, Víctor

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature von 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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The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome von Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio‐Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez‐Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von 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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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder von Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard S., García‐Miñaúr, Sixto, Gerard, Amanda, Gomez‐Puertas, Paulino, Guillen Sacoto, Maria J., Hoffman, Trevor L., Howard, Lillian, Iglesias, Alejandro D., Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos‐Alcalde, Iñigo, Mintz, Cassie S., Mullegama, Sureni V., Møller, Rikke S., Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Parikh, Sumit, Paulson, Anna M., Platzer, Konrad, Posey, Jennifer E., Potocki, Lorraine, Revah‐Politi, Anya, Rio, Marlene, Ritter, Alyssa L., Robinson, Scott, Rosenfeld, Jill A., Santos‐Simarro, Fernando, Sousa, Sérgio B., Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha J., Tümer, Zeynep

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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review von Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg, Daniel, Balcells, Susanna, Serrano, Mercedes, Rabionet, Raquel, Martin, Miguel A., Urreizti, Roser

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Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus von Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, Maria, del Pozo, Angela, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype von 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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A Novel Role for the Tumor Suppressor Gene ITF2 in Tumorigenesis and Chemotherapy Response von Pernia, Olga, Sastre-Perona, Ana, Rodriguez-Antolin, Carlos, Garcia-Guede, Alvaro, Palomares-Bralo, Maria, Rosas, Rocio, Sanchez-Cabrero, Dario, Cruz, Patricia, Rodriguez, Carmen, Diestro, MDolores, Martin-Arenas, Ruben, Pulido, Veronica, Santisteban, Pilar, de Castro, Javier, Vera, Olga, Ibanez de Caceres, Inmaculada

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Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review von Tenorio-Castano, Jair, Morte, Beatriz, Nevado, Julian, Martinez-Glez, Victor, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Palomares-Bralo, Maria, Pacio-Miguez, Marta, Gomez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrion, Juan, Arias, Patricia, Almoguera, Berta, Lopez-Grondona, Fermina, Lorda-Sanchez, Isabel, Galan-Gomez, Enrique, Valenzuela, Irene, Mendez Perez, Maria Pilar, Cusco, Ivon, Barros, Francisco, Pie, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Perez-Jurado, Luis A., Carracedo, Angel, Lapunzina, Pablo

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