Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome von Ventayol‐Guirado, Marc, Torres, Laura, Asensio‐Landa, Victor, Pérez‐Granero, Ángeles, Madrid, Maria Isabel, Hernandez‐Rodriguez, Jessica, Llull‐Alberti, Maria Victoria, Lumbreras, Javier, Escribà, Silvia, Pons, Monserrat, Roldan, Jordi, Martínez‐López, Iciar, Heine‐Suñer, Damian, Santos‐Simarro, Fernando

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PIGN encephalopathy: Characterizing the epileptology von Bayat, Allan, Valles‐Ibáñez, Guillem, Pendziwiat, Manuela, Knaus, Alexej, Alt, Kerstin, Biamino, Elisa, Bley, Annette, Calvert, Sophie, Carney, Patrick, Caro‐Llopis, Alfonso, Ceulemans, Berten, Cousin, Janice, Davis, Suzanne, Portes, Vincent, Edery, Patrick, England, Eleina, Ferreira, Carlos, Freeman, Jeremy, Gener, Blanca, Gorce, Magali, Heron, Delphine, Hildebrand, Michael S., Jezela‐Stanek, Aleksandra, Jouk, Pierre‐Simon, Keren, Boris, Kloth, Katja, Kluger, Gerhard, Kuhn, Marius, Lemke, Johannes R., Li, Hong, Martinez, Francisco, Maxton, Caroline, Mefford, Heather C., Merla, Giuseppe, Mierzewska, Hanna, Muir, Alison, Monfort, Sandra, Nicolai, Joost, Norman, Jennifer, O'Grady, Gina, Oleksy, Barbara, Orellana, Carmen, Orec, Laura Elena, Peinhardt, Charlotte, Pronicka, Ewa, Rosello, Monica, Santos‐Simarro, Fernando, Schwaibold, Eva Maria Christina, Stegmann, Alexander P. A., Stumpel, Constance T., Szczepanik, Elzbieta, Terczyńska, Iwona, Thevenon, Julien, Tzschach, Andreas, Van Bogaert, Patrick, Vittorini, Roberta, Walsh, Sonja, Weckhuysen, Sarah, Weissman, Barbara, Wolfe, Lynne, Reymond, Alexandre, De Nittis, Pasquelena, Poduri, Annapurna, Olson, Heather, Striano, Pasquale, Lesca, Gaetan, Scheffer, Ingrid E., Møller, Rikke S., Sadleir, Lynette G.

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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies von Álvarez, Luis Francisco González, Tenorio‐Castaño, Jair, Poletta, Fernando A., Santos‐Simarro, Fernando, Arias, Pedro, Gallego, Natalia, Orioli, Iêda Maria, Mundlos, Stefan, Castilla, Eduardo E., Martínez‐Glez, Víctor, Martínez‐Frías, María Luisa, Ruiz‐Pérez, Víctor L., Nevado, Julián, Lapunzina, Pablo

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases von Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

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Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features von Tenorio‐Castaño, Jair Antonio, Arias, Pedro, Fernández‐Jaén, Alberto, Lay‐Son, Guillermo, Bueno‐Lozano, Gloria, Bayat, Allan, Faivre, Laurence, Gallego, Natalia, Ramos, Sergio, Butler, Kameryn M., Morel, Chantal, Hadjiyannakis, Stasia, Lespinasse, James, Tran‐Mau‐Them, Frederic, Santos‐Simarro, Fernando, Pinson, Lucile, Martínez‐Monseny, Antonio Federico, O'Callaghan Cord, María del Mar, Álvarez, Sara, Stolerman, Elliot S., Washington, Camerun, Ramos, Feliciano J., The S. O. G. R. I. Consortium, Lapunzina, Pablo

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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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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals von Suter, Aude‐Annick, Santos‐Simarro, Fernando, Toerring, Pernille Mathiesen, Abad Perez, Angela, Ramos‐Mejia, Rosario, Heath, Karen E., Huckstadt, Victoria, Parrón‐Pajares, Manuel, Mensah, Martin Atta, Hülsemann, Wiebke, Holtgrewe, Manuel, Mundlos, Stefan, Kornak, Uwe, Bartsch, Oliver, Ehmke, Nadja

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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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Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions von Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan

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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients von Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena

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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report von Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián

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Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome von García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo

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NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported von Torres-Juan, Laura, Rico, Yolanda, Fortuny, Elena, Pons, Jaume, Ramos, Rafael, Santos-Simarro, Fernando, Asensio, Víctor, Martinez, Iciar, Heine-Suñer, Damian

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Further delineation of Malan syndrome von Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

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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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Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum von López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena

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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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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome von Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M, Twigg, Stephen R F, Calpena, Eduardo, Carceller-Benito, Fernando E, Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E

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Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome Scale von Lleuger‐Pujol, Roser, Castelló, Eduardo Ortega, Franco, Lorenzo Fernández, Vallejo, Manuel Eliecer Espinel, Cabello, Patricia Muñoz, Simarro, Fernando Santos, McAllister, Marion, García‐Miñaúr, Sixto

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Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON von Quintana Castanedo, Lucía, Sánchez Orta, Alba, Maseda Pedrero, Rocío, Santos Simarro, Fernando, Palomares Bralo, María, Feito Rodríguez, Marta, Lucas Laguna, Raúl

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