Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia von Massink, Maarten P.G., Créton, Marijn A., Spanevello, Francesca, Fennis, Willem M.M., Cune, Marco S., Savelberg, Sanne M.C., Nijman, Isaäc J., Maurice, Madelon M., van den Boogaard, Marie-José H., van Haaften, Gijs

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HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome von Reichert, Sara C., Li, Rachel, Turner, Scott, Jaarsveld, Richard H., Massink, Maarten P.G., Boogaard, Marie‐José H., Toro, Mireia, Rodríguez‐Palmero, Agustí, Fourcade, Stéphane, Schlüter, Agatha, Planas‐Serra, Laura, Pujol, Aurora, Iascone, Maria, Maitz, Silvia, Loong, Lucy, Stewart, Helen, De Franco, Elisa, Ellard, Sian, Frank, Julie, Lewandowski, Raymond

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Mortality in Robin sequence: identification of risk factors von Logjes, Robrecht J. H., Haasnoot, Maartje, Lemmers, Petra M. A., Nicolaije, Mike F. A., van den Boogaard, Marie-José H., Mink van der Molen, Aebele B., Breugem, Corstiaan C.

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MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability von Ylikallio, Emil, Woldegebriel, Rosa, Tumiati, Manuela, Isohanni, Pirjo, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Sawyer, Sarah L, Bell, Katrina M, Oshlack, Alicia, Lockhart, Paul J, Shcherbii, Mariia, Estrada-Cuzcano, Alejandro, Atkinson, Derek, Hartley, Taila, Tetreault, Martine, Cuppen, Inge, van der Pol, W Ludo, Candayan, Ayse, Battaloglu, Esra, Parman, Yesim, van Gassen, Koen L I, van den Boogaard, Marie-José H, Boycott, Kym M, Kauppi, Liisa, Jordanova, Albena, Lönnqvist, Tuula, Tyynismaa, Henna

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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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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans von Dorland, Marinus, van Amstel, Hans Kristian Ploos, Beemer, Frits A, van den Boogaard, Marie-José H

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Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature von Paes, Emma C., van Nunen, Daan P. F., Basart, Hanneke, Don Griot, J. Peter W., van Hagen, Johanna M., van der Horst, Chantal M. A. M., van den Boogaard, Marie-José H., Breugem, Corstiaan C.

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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content von Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

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Clinical Practice Guidelines on the Treatment of Patients with Cleft Lip, Alveolus, and Palate: An Executive Summary von Mink van der Molen, Aebele B., van Breugel, Johanna M. M., Janssen, Nard G., Admiraal, Ronald J. C., van Adrichem, Leon N. A., Bierenbroodspot, Frank, Bittermann, Dirk, van den Boogaard, Marie-José H., Broos, Pieter H., Dijkstra-Putkamer, Janet J. M., van Gemert-Schriks, Martine C. M., Kortlever, Andrea L. J., Mouës-Vink, Chantal M., Swanenburg de Veye, Henriette F. N., van Tol-Verbeek, Nanouk, Vermeij-Keers, Christl, de Wilde, Hester, Kuijpers-Jagtman, Anne Marie

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Microtia in the Netherlands: Clinical characteristics and associated anomalies von van Nunen, Daan P.F, Kolodzynski, Mischka N, van den Boogaard, Marie-José H, Kon, Moshe, Breugem, Corstiaan C

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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder von Janssen, Beau D. E., Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., Gassen, Koen, Jaarsveld, Richard H.

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The ontogeny of Robin sequence von Logjes, Robrecht J. H., Breugem, Corstiaan C., Van Haaften, Gijs, Paes, Emma C., Sperber, Geoffrey H., van den Boogaard, Marie‐José H., Farlie, Peter G.

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Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) von Monroe, Glen R, Kappen, Isabelle Fpm, Stokman, Marijn F, Terhal, Paulien A, van den Boogaard, Marie-José H, Savelberg, Sanne Mc, van der Veken, Lars T, van Es, Robert Jj, Lens, Susanne M, Hengeveld, Rutger C, Creton, Marijn A, Janssen, Nard G, Mink van der Molen, Aebele B, Ebbeling, Michelle B, Giles, Rachel H, Knoers, Nine V, van Haaften, Gijs

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome von Van Houdt, Jeroen K J, Nowakowska, Beata Anna, Sousa, Sérgio B, van Schaik, Barbera D C, Seuntjens, Eve, Avonce, Nelson, Sifrim, Alejandro, Abdul-Rahman, Omar A, van den Boogaard, Marie-José H, Bottani, Armand, Castori, Marco, Cormier-Daire, Valérie, Deardorff, Matthew A, Filges, Isabel, Fryer, Alan, Fryns, Jean-Pierre, Gana, Simone, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hall, Bryan D, Horn, Denise, Huylebroeck, Danny, Klapecki, Jakub, Krajewska-Walasek, Malgorzata, Kuechler, Alma, Lines, Matthew A, Maas, Saskia, MacDermot, Kay D, McKee, Shane, Magee, Alex, de Man, Stella A, Moreau, Yves, Morice-Picard, Fanny, Obersztyn, Ewa, Pilch, Jacek, Rosser, Elizabeth, Shannon, Nora, Stolte-Dijkstra, Irene, Van Dijck, Patrick, Vilain, Catheline, Vogels, Annick, Wakeling, Emma, Wieczorek, Dagmar, Wilson, Louise, Zuffardi, Orsetta, van Kampen, Antoine H C, Devriendt, Koenraad, Hennekam, Raoul, Vermeesch, Joris Robert

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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands von Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G

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Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder von Plug, Marielle B., van Wijngaarden, Vivian, de Wilde, Hester, van Binsbergen, Ellen, Stegeman, Inge, van den Boogaard, Marie-José H., Smit, Adriana L.

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De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders von Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie-José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean-Philippe P., de Vries, Bert B.A.

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MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts von van den Boogaard, Marie-José H, de Costa, Dominique, Krapels, Ingrid P. C, Liu, Fan, van Duijn, Cock, Sinke, Richard J, Lindhout, Dick, Steegers-Theunissen, Régine P. M

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Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation von Ross, Jamila N., Ruigrok, Lisanne C., Fennis, Willem M.M., Cune, Marco S., Rosenberg, Antoine J.W.P., van Nunen, Annick B., Créton, Marijn A., Ploos van Amstel, Hans‐Kristian, van den Boogaard, Marie‐José J.H.

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Etiology and pathogenesis of robin sequence in a large Dutch cohort von Basart, Hanneke, Paes, Emma C., Maas, Saskia M., van den Boogaard, Marie-Jose H., van Hagen, Johanna M., Breugem, Corstiaan C., Cobben, Jan Maarten, Don Griot, J. Peter W., Lachmeijer, Augusta M. A., Lichtenbelt, Klaske D., van Nunen, Daan P. F., van der Horst, Chantal M., Hennekam, Raoul C.

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