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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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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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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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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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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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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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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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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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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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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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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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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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes von Gui, Hongsheng, Schriemer, Duco, Cheng, William W, Chauhan, Rajendra K, Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S, Brouwer, Rutger W W, Burns, Alan J, Cherny, Stacey S, Dopazo, Joaquin, Eggen, Bart J L, Griseri, Paola, Jalloh, Binta, Le, Thuy-Linh, Lui, Vincent C H, Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S W, Pelet, Anna, Ruiz-Ferrer, Macarena, Sham, Pak C, Shepherd, Iain T, So, Man-Ting, Sribudiani, Yunia, Tang, Clara S M, van den Hout, Mirjam C G N, van der Linde, Herma C, van Ham, Tjakko J, van IJcken, Wilfred F J, Verheij, Joke B G M, Amiel, Jeanne, Borrego, Salud, Ceccherini, Isabella, Chakravarti, Aravinda, Lyonnet, Stanislas, Tam, Paul K H, Garcia-Barceló, Maria-Mercè, Hofstra, Robert M W

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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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The clinical spectrum of complete FBN1 allele deletions von HILHORST-HOFSTEE, Yvonne, HAMEL, Ben Cj, MOLL, Henriette A, BREUNING, Martijn H, PALS, Gerard, VERHEIJ, Joke Bgm, RIJLAARSDAM, Marry Eb, MANCINI, Grazia Ms, COBBEN, Jan M, GIROTH, Cindy, RUIVENKAMP, Claudia Al, HANSSON, Kerstin Bm, TIMMERMANS, Janneke

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Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease von Tang, Clara Sze-Man, Gui, Hongsheng, Kapoor, Ashish, Kim, Jeong-Hyun, Luzón-Toro, Berta, Pelet, Anna, Burzynski, Grzegorz, Lantieri, Francesca, So, Man-Ting, Berrios, Courtney, Shin, Hyoung Doo, Fernández, Raquel M, Le, Thuy-Linh, Verheij, Joke B G M, Matera, Ivana, Cherny, Stacey S, Nandakumar, Priyanka, Cheong, Hyun Sub, Antiñolo, Guillermo, Amiel, Jeanne, Seo, Jeong-Meen, Kim, Dae-Yeon, Oh, Jung-Tak, Lyonnet, Stanislas, Borrego, Salud, Ceccherini, Isabella, Hofstra, Robert M W, Chakravarti, Aravinda, Kim, Hyun-Young, Sham, Pak Chung, Tam, Paul K H, Garcia-Barceló, Maria-Mercè

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

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Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation von van der Werf, Christine S., Halim, Danny, Verheij, Joke B.G.M., Alves, Maria M., Hofstra, Robert M.W.

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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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