Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides von Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.

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Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability von Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda

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CLMP Is Required for Intestinal Development, and Loss-of-Function Mutations Cause Congenital Short-Bowel Syndrome von Van Der Werf, Christine S, Wabbersen, Tara D, Hsiao, Nai–Hua, Paredes, Joana, Etchevers, Heather C, Kroisel, Peter M, Tibboel, Dick, Babarit, Candice, Schreiber, Richard A, Hoffenberg, Edward J, Vekemans, Michel, Zeder, Sirkka L, Ceccherini, Isabella, Lyonnet, Stanislas, Ribeiro, Ana S, Seruca, Raquel, te Meerman, Gerard J, van Ijzendoorn, Sven C.D, Shepherd, Iain T, Verheij, Joke B.G.M, Hofstra, Robert M.W

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Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations von van der Werf, Christine S., Sribudiani, Yunia, Verheij, Joke B.G.M., Carroll, Matthew, O’Loughlin, Edward, Chen, Chien-Huan, Brooks, Alice S., Liszewski, M. Kathryn, Atkinson, John P., Hofstra, Robert M.W.

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans von Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A, Prescott, Trine E, Schroor, Eelco J, Verheij, Joke B G M, Witte, Merlijn, Zwijnenburg, Petra J, Vikkula, Mikka, Schulte-Merker, Stefan, Hennekam, Raoul C

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Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability von Jongmans, Marjolijn C.J., Hoefsloot, Lies H., van der Donk, Kim P., Admiraal, Ronald J., Magee, Alex, van de Laar, Ingrid, Hendriks, Yvonne, Verheij, Joke B.G.M., Walpole, Ian, Brunner, Han G., van Ravenswaaij, Conny M.A.

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Mutations in two regions of FLNB result in atelosteogenesis I and III von Farrington-Rock, Claire, Firestein, Marc H., Bicknell, Louise S., Superti-Furga, Andrea, Bacino, Carlos A., Cormier-Daire, Valerie, Le Merrer, Martine, Baumann, Clarisse, Roume, Joelle, Rump, Patrick, Verheij, Joke B.G.M., Sweeney, Elizabeth, Rimoin, David L., Lachman, Ralph S., Robertson, Stephen P., Cohn, Daniel H., Krakow, Deborah

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Identifying Candidate Hirschsprung Disease–Associated RET Variants von Burzynski, Grzegorz M., Nolte, Ilja M., Bronda, Agnes, Bos, Krista K., Osinga, Jan, Plaza Menacho, Ivan, Twigt, Bas, Maas, Saskia, Brooks, Alice S., Joke Verheij, B.G.M., Charles Buys, H.C.M., Robert Hofstra, M.W.

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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 von Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke, Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David

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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction von Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.

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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice von Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.

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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency von van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan

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The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants von Runhart, Esmee H, Sangermano, Riccardo, Cornelis, Stéphanie S, Verheij, Joke B G M, Plomp, Astrid S, Boon, Camiel J F, Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M, Blokland, Ellen A W, Jacobs-Camps, Marlie H M, van der Velde-Visser, Saskia D, Pott, Jan-Willem R, Rohrschneider, Klaus, Thiadens, Alberta A H J, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, Cremers, Frans P M

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment von Haer-Wigman, Lonneke, van Zelst-Stams, Wendy Ag, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline Cw, Verheij, Joke Bgm, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel Jf, Kievit, Anneke J, Verhoeven, Virginie Jm, Pott, Jan Wr, Sallevelt, Suzanne Ceh, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans Pm, Hoefsloot, Lies, Yntema, Helger G

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A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound von Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, Diemen, Cleo C.

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Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability von Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda

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Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles von Runhart, Esmee H, Valkenburg, Dyon, Cornelis, Stéphanie S, Khan, Mubeen, Sangermano, Riccardo, Albert, Silvia, Bax, Nathalie M, Astuti, Galuh D N, Gilissen, Christian, Pott, Jan-Willem R, Verheij, Joke B G M, Blokland, Ellen A W, Cremers, Frans P M, van den Born, L Ingeborgh, Hoyng, Carel B

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ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome von Halim, Danny, Hofstra, Robert M W, Signorile, Luca, Verdijk, Rob M, van der Werf, Christine S, Sribudiani, Yunia, Brouwer, Rutger W W, van IJcken, Wilfred F J, Dahl, Niklas, Verheij, Joke B G M, Baumann, Clarisse, Kerner, John, van Bever, Yolande, Galjart, Niels, Wijnen, Rene M H, Tibboel, Dick, Burns, Alan J, Muller, Françoise, Brooks, Alice S, Alves, Maria M

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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome von Meester, Josephina A.N., Southgate, Laura, Stittrich, Anna-Barbara, Venselaar, Hanka, Beekmans, Sander J.A., den Hollander, Nicolette, Bijlsma, Emilia K., Helderman-van den Enden, Appolonia, Verheij, Joke B.G.M., Glusman, Gustavo, Roach, Jared C., Lehman, Anna, Patel, Millan S., de Vries, Bert B.A., Ruivenkamp, Claudia, Itin, Peter, Prescott, Katrina, Clarke, Sheila, Trembath, Richard, Zenker, Martin, Sukalo, Maja, Van Laer, Lut, Loeys, Bart, Wuyts, Wim

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Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis von Cornelis, Stéphanie S, IntHout, Joanna, Runhart, Esmee H, Grunewald, Olivier, Lin, Siying, Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah J, Whelan, Laura, Farrar, G Jane, Sharon, Dror, van den Born, L Ingeborgh, Arno, Gavin, Simcoe, Mark, Michaelides, Michel, Webster, Andrew R, Roosing, Susanne, Mahroo, Omar A, Dhaenens, Claire-Marie, Cremers, Frans P M

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