Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry von Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.

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De novo mutations in PLXND1 and REV3L cause Möbius syndrome von Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans

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Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9 von Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans

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Deletions and loss-of-function variants in TP63 associated with orofacial clefting von Khandelwal, Kriti D, van den Boogaard, Marie-José H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A L M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Bergé, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Dötsch, Volker, Carels, Carine E L, van Bokhoven, Hans

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Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy von van Tol, Walinka, van Scherpenzeel, Monique, Alsady, Mohammad, Riemersma, Moniek, Hermans, Esther, Kragt, Else, Tasca, Giorgio, Kamsteeg, Erik-Jan, Pennings, Maartje, van Beusekom, Ellen, Vermeulen, Jeroen R, van Bokhoven, Hans, Voermans, Nicol C, Willemsen, Michèl A, Ashikov, Angel, Lefeber, Dirk J

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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1 von Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans

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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome von Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.

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Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis von Schrauwen, Isabelle, Valgaeren, Hanne, Tomas-Roca, Laura, Sommen, Manou, Altunoglu, Umut, Wesdorp, Mieke, Beyens, Matthias, Fransen, Erik, Nasir, Abdul, Vandeweyer, Geert, Schepers, Anne, Rahmoun, Malika, van Beusekom, Ellen, Huentelman, Matt J., Offeciers, Erwin, Dhooghe, Ingeborg, Huber, Alex, Van de Heyning, Paul, Zanetti, Diego, De Leenheer, Els M. R., Gilissen, Christian, Hoischen, Alexander, Cremers, Cor W., Verbist, Berit, de Brouwer, Arjan P. M., Padberg, George W., Pennings, Ronald, Kayserili, Hülya, Kremer, Hannie, Van Camp, Guy, van Bokhoven, Hans

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MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome von van Bokhoven, Hans, Celli, Jacopo, van Reeuwijk, Jeroen, Rinne, Tuula, Glaudemans, Bob, van Beusekom, Ellen, Rieu, Paul, Newbury-Ecob, Ruth A, Chiang, Chin, Brunner, Han G

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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation von de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.

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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome von Brussel, Wim, Percin, E. Ferda, Celli, Jacopo, Balci, Sevim, Kerr, Bronwyn, van Beusekom, Ellen, Akarsu, Nurten, van Bokhoven, Hans, Kayserili, Hülya, Brunner, Han G, Skovby, Flemming

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CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability von Hommersom, Marina P, Doorn, Nina, Puvogel, Sofía, Lewerissa, Elly I, Mordelt, Annika, Ciptasari, Ummi, Kampshoff, Franziska, Dillen, Lieke, van Beusekom, Ellen, Oudakker, Astrid, Kogo, Naoki, Dolga, Amalia M, Frega, Monica, Schubert, Dirk, van de Warrenburg, Bart P C, Nadif Kasri, Nael, van Bokhoven, Hans

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Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome von Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J, Stemple, Derek L, Lin, Yung-Yao, Lefeber, Dirk J, van Bokhoven, Hans

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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder von Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza

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Transcriptome Analysis Identifies Multifaceted Regulatory Mechanisms Dictating a Genetic Switch from Neuronal Network Establishment to Maintenance During Postnatal Prefrontal Corte... von Kroeze, Yvet, Oti, Martin, van Beusekom, Ellen, Cooijmans, Roel H M, van Bokhoven, Hans, Kolk, Sharon M, Homberg, Judith R, Zhou, Huiqing

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Back Cover, Volume 43, Issue 7 von Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis von Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.

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Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome von Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J., Dawood, Moez, Lins, Tulio C., Chiabai, Marcela A., Beusekom, Ellen, Cordoba, Mara S., Caldas Rosa, Erica C.C., Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M., Jorge, Alexander A. L., Kim, Chong A., Honjo, Rachel, Bertola, Débora R., Dandalo‐Girardi, Raissa M., Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C., Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N., Muzny, Donna M., Regattieri, Neysa A.P., Pogue, Robert, Pereira, Rinaldo W., Otto, Paulo A., Gibbs, Richard A., Ali, Bassam R., Bokhoven, Hans, Brunner, Han G., Sutton, V. Reid, Lupski, James R., Vianna‐Morgante, Angela M., Carvalho, Claudia M. B., Mazzeu, Juliana F.

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Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome von Riemersma, Moniek, Mandel, Hanna, van Beusekom, Ellen, Gazzoli, Isabella, Roscioli, Tony, Eran, Ayelet, Gershoni-Baruch, Ruth, Gershoni, Moran, Pietrokovski, Shmuel, Vissers, Lisenka E, Lefeber, Dirk J, Willemsen, Michèl A, Wevers, Ron A, van Bokhoven, Hans

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Deletions and loss-of-function variants in TP63 associated with orofacial clefting von Khandelwal, Kriti D, van den Boogaard, Marie-Jose H, Mehrem, Sarah L, Gebel, Jakob, Fagerberg, Christina, van Beusekom, Ellen, van Binsbergen, Ellen, Topaloglu, Ozan, Steehouwer, Marloes, Gilissen, Christian, Ishorst, Nina, van Rooij, Iris A.L.M, Roeleveld, Nel, Christensen, Kaare, Schoenaers, Joseph, Berge, Stefaan, Murray, Jeffrey C, Hens, Greet, Devriendt, Koen, Ludwig, Kerstin U, Mangold, Elisabeth, Hoischen, Alexander, Zhou, Huiqing, Doetsch, Volker, Carels, Carine E.L, van Bokhoven, Hans

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