Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway von Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome von Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein

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Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid von Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.

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Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms von Kloosterman, Wigard P., Tavakoli-Yaraki, Masoumeh, van Roosmalen, Markus J., van Binsbergen, Ellen, Renkens, Ivo, Duran, Karen, Ballarati, Lucia, Vergult, Sarah, Giardino, Daniela, Hansson, Kerstin, Ruivenkamp, Claudia A.L., Jager, Myrthe, van Haeringen, Arie, Ippel, Elly F., Haaf, Thomas, Passarge, Eberhard, Hochstenbach, Ron, Menten, Björn, Larizza, Lidia, Guryev, Victor, Poot, Martin, Cuppen, Edwin

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Prenatal Ultrasonographic Features Associated With ARSL and X‐Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series von Broeren, Eleanor, Stover, Samantha, Bennett, Katya, Giordano, Jessica, Galloway, Stephanie, Lauzon, Julie, Rust, Laura, Suerink, Manon, Haeringen, Arie, Reimers, Rebecca

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Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang–Wang syndrome von Liang, Lina, Liu, Huihui, Bartholdi, Deborah, Haeringen, Arie, Fernandez‐Jaén, Alberto, Peeters, Els E. A., Xiong, Hongbo, Bai, Xuemei, Xu, Chengqi, Ke, Tie, Wang, Qing K.

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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation family von Koene, Saskia, Klerx‐Melis, Floortje, Roest, Arno Anne Willem, Kleijwegt, Maarten Cornelis, Bootsma, Marianne, Haak, Monique C., Haeringen, Meike Heleen, Ruivenkamp, Claudia Antoinette Laetitia, Nibbeling, Esther Anne Rieky, Haeringen, Arie

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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans von de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne

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Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt von Pelgrims, Elise, Lynch, Sally Ann, Hannes, Laurens, Hoffer, Mariëtte J. V., Melotte, Cindy, Van Haeringen, Arie, Swillen, Ann, Breckpot, Jeroen

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Clinical delineation of SETBP1 haploinsufficiency disorder von Jansen, Nadieh A, Braden, Ruth O, Srivastava, Siddharth, Otness, Erin F, Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A, Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M K, Whalen, Sandra, Fisher, Simon E, Morgan, Angela T, van Bon, Bregje W

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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome von Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane, Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R, Hehr, Ute, Dixon, Michael J, Breuning, Martijn H, Wieczorek, Dagmar

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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families von Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

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Heterozygous variants in SPTBN1 cause intellectual disability and autism von Rosenfeld, Jill A., Xiao, Rui, Bekheirnia, Mir Reza, Kanani, Farah, Parker, Michael J., Koenig, Mary K., Haeringen, Arie, Ruivenkamp, Claudia, Rosmaninho‐Salgado, Joana, Almeida, Pedro M., Sá, Joaquim, Pinto Basto, Jorge, Palen, Emily, Oetjens, Kathryn F., Burrage, Lindsay C., Xia, Fan, Liu, Pengfei, Eng, Christine M., Yang, Yaping, Posey, Jennifer E., Lee, Brendan H.

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies von Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H, Donze, Stephany H, Bijlsma, Emilia K, van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K, Parker, Michael J, Lemke, Johannes R, Hoffmann, Georg F, Kölker, Stefan, Harting, Inga, Syrbe, Steffen

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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies von Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

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A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway von Popov, Ivan K, Hiatt, Susan M, Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M, Korf, Bruce R, Chang, Chenbei

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Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome von van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.

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Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons von Runge, Karen, Mathieu, Rémi, Bugeon, Stéphane, Lafi, Sahra, Beurrier, Corinne, Sahu, Surajit, Schaller, Fabienne, Loubat, Arthur, Herault, Leonard, Gaillard, Stéphane, Pallesi-Pocachard, Emilie, Montheil, Aurélie, Bosio, Andreas, Rosenfeld, Jill A., Hudson, Eva, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Jeffries, Lauren, van Haeringen, Arie, Vanakker, Olivier, Van Hecke, Audrey, Amrom, Dina, Küry, Sebastien, Ratner, Chana, Jethva, Reena, Gamble, Candace, Jacq, Bernard, Fasano, Laurent, Santpere, Gabriel, Lorente-Galdos, Belen, Sestan, Nenad, Gelot, Antoinette, Giacuzz, Sylvie, Goebbels, Sandra, Represa, Alfonso, Cardoso, Carlos, Cremer, Harold, de Chevigny, Antoine

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Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome von Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 von Zaveri, Hitisha P, Beck, Tyler F, Hernández-García, Andrés, Shelly, Katharine E, Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E, Cheung, Sau Wai, Lalani, Seema R, Scott, Daryl A

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